An individual in which both alleles at a given locus are identical.
An individual having different alleles at one or more loci regarding a specific character.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Identification of genetic carriers for a given trait.
Genotypic differences observed among individuals in a population.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
Mice bearing mutant genes which are phenotypically expressed in the animals.
One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.
Genes that influence the PHENOTYPE only in the homozygous state.
Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Individuals whose ancestral origins are in the continent of Europe.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Biochemical identification of mutational changes in a nucleotide sequence.
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.
Any method used for determining the location of and relative distances between genes on a chromosome.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Color of hair or fur.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Enzymes catalyzing the dehydrogenation of secondary amines, introducing a C=N double bond as the primary reaction. In some cases this is later hydrolyzed.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Structural proteins of the alpha-lipoproteins (HIGH DENSITY LIPOPROTEINS), including APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II. They can modulate the activity of LECITHIN CHOLESTEROL ACYLTRANSFERASE. These apolipoproteins are low in atherosclerotic patients. They are either absent or present in extremely low plasma concentration in TANGIER DISEASE.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states.
Color of the iris.
A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.
A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.
A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
An increase in the total red cell mass of the blood. (Dorland, 27th ed)
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Mice which carry mutant genes for neurologic defects or abnormalities.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
A thiol-containing amino acid formed by a demethylation of METHIONINE.
The mating of plants or non-human animals which are closely related genetically.
A country spanning from central Asia to the Pacific Ocean.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
The most abundant protein component of HIGH DENSITY LIPOPROTEINS or HDL. This protein serves as an acceptor for CHOLESTEROL released from cells thus promoting efflux of cholesterol to HDL then to the LIVER for excretion from the body (reverse cholesterol transport). It also acts as a cofactor for LECITHIN CHOLESTEROL ACYLTRANSFERASE that forms CHOLESTEROL ESTERS on the HDL particles. Mutations of this gene APOA1 cause HDL deficiency, such as in FAMILIAL ALPHA LIPOPROTEIN DEFICIENCY DISEASE and in some patients with TANGIER DISEASE.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
A non-essential amino acid that is synthesized from GLUTAMIC ACID. It is an essential component of COLLAGEN and is important for proper functioning of joints and tendons.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
A family of sterols commonly found in plants and plant oils. Alpha-, beta-, and gamma-isomers have been characterized.
A group of apolipoproteins that can readily exchange among the various classes of lipoproteins (HDL; VLDL; CHYLOMICRONS). After lipolysis of TRIGLYCERIDES on VLDL and chylomicrons, Apo-C proteins are normally transferred to HDL. The subtypes can modulate remnant binding to receptors, LECITHIN CHOLESTEROL ACYLTRANSFERASE, or LIPOPROTEIN LIPASE.
A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
Triglycerides are the most common type of fat in the body, stored in fat cells and used as energy; they are measured in blood tests to assess heart disease risk, with high levels often resulting from dietary habits, obesity, physical inactivity, smoking, and alcohol consumption.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.
The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.
The influence of study results on the chances of publication and the tendency of investigators, reviewers, and editors to submit or accept manuscripts for publication based on the direction or strength of the study findings. Publication bias has an impact on the interpretation of clinical trials and meta-analyses. Bias can be minimized by insistence by editors on high-quality research, thorough literature reviews, acknowledgement of conflicts of interest, modification of peer review practices, etc.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Proteins that bind to and transfer CHOLESTEROL ESTERS between LIPOPROTEINS such as LOW-DENSITY LIPOPROTEINS and HIGH-DENSITY LIPOPROTEINS.
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.
A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.
A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes.
Shrews are small, insectivorous mammals belonging to the family Soricidae, characterized by their pointed snouts, tiny eyes, and rapid movements.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
Transport proteins that carry specific substances in the blood or across cell membranes.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
A system of universal human blood group isoantigens with many associated subgroups. The M and N traits are codominant and the S and s traits are probably very closely linked alleles, including the U antigen. This system is most frequently used in paternity studies.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Heat- and storage-labile plasma glycoprotein which accelerates the conversion of prothrombin to thrombin in blood coagulation. Factor V accomplishes this by forming a complex with factor Xa, phospholipid, and calcium (prothrombinase complex). Deficiency of factor V leads to Owren's disease.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.
A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.

Mrj encodes a DnaJ-related co-chaperone that is essential for murine placental development. (1/7123)

We have identified a novel gene in a gene trap screen that encodes a protein related to the DnaJ co-chaperone in E. coli. The gene, named Mrj (mammalian relative of DnaJ) was expressed throughout development in both the embryo and placenta. Within the placenta, expression was particularly high in trophoblast giant cells but moderate levels were also observed in trophoblast cells of the chorion at embryonic day 8.5, and later in the labyrinth which arises from the attachment of the chorion to the allantois (a process called chorioallantoic fusion). Insertion of the ROSAbetageo gene trap vector into the Mrj gene created a null allele. Homozygous Mrj mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, which precluded formation of the mature placenta. At embryonic day 8.5, the chorion in mutants was morphologically normal and expressed the cell adhesion molecule beta4 integrin that is known to be required for chorioallantoic fusion. However, expression of the chorionic trophoblast-specific transcription factor genes Err2 and Gcm1 was significantly reduced. The mutants showed no abnormal phenotypes in other trophoblast cell types or in the embryo proper. This study indicates a previously unsuspected role for chaperone proteins in placental development and represents the first genetic analysis of DnaJ-related protein function in higher eukaryotes. Based on a survey of EST databases representing different mouse tissues and embryonic stages, there are 40 or more DnaJ-related genes in mammals. In addition to Mrj, at least two of these genes are also expressed in the developing mouse placenta. The specificity of the developmental defect in Mrj mutants suggests that each of these genes may have unique tissue and cellular activities.  (+info)

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. (2/7123)

The mouse mutants of the hemimelia-luxate group (lx, lu, lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4; [1] [2] [3] [4] [5]) have in common preaxial polydactyly and longbone abnormalities. Associated with the duplication of digits are changes in the regulation of development of the anterior limb bud resulting in ectopic expression of signalling components such as Sonic hedgehog (Shh) and fibroblast growth factor-4 (Fgf4), but little is known about the molecular causes of this misregulation. We generated, by a transgene insertion event, a new member of this group of mutants, Sasquatch (Ssq), which disrupted aspects of both anteroposterior (AP) and dorsoventral (DV) patterning. The mutant displayed preaxial polydactyly in the hindlimbs of heterozygous embryos, and in both hindlimbs and forelimbs of homozygotes. The Shh, Fgf4, Fgf8, Hoxd12 and Hoxd13 genes were all ectopically expressed in the anterior region of affected limb buds. The insertion site was found to lie close to the Shh locus. Furthermore, expression from the transgene reporter has come under the control of a regulatory element that directs a pattern mirroring the endogenous expression pattern of Shh in limbs. In abnormal limbs, both Shh and the reporter were ectopically induced in the anterior region, whereas in normal limbs the reporter and Shh were restricted to the zone of polarising activity (ZPA). These data strongly suggest that Ssq is caused by direct interference with the cis regulation of the Shh gene.  (+info)

Loss-of-function mutations in the rice homeobox gene OSH15 affect the architecture of internodes resulting in dwarf plants. (3/7123)

The rice homeobox gene OSH15 (Oryza sativa homeobox) is a member of the knotted1-type homeobox gene family. We report here on the identification and characterization of a loss-of-function mutation in OSH15 from a library of retrotransposon-tagged lines of rice. Based on the phenotype and map position, we have identified three independent deletion alleles of the locus among conventional morphological mutants. All of these recessive mutations, which are considered to be null alleles, exhibit defects in internode elongation. Introduction of a 14 kbp genomic DNA fragment that includes all exons, introns and 5'- and 3'- flanking sequences of OSH15 complemented the defects in internode elongation, confirming that they were caused by the loss-of-function of OSH15. Internodes of the mutants had abnormal-shaped epidermal and hypodermal cells and showed an unusual arrangement of small vascular bundles. These mutations demonstrate a role for OSH15 in the development of rice internodes. This is the first evidence that the knotted1-type homeobox genes have roles other than shoot apical meristem formation and/or maintenance in plant development.  (+info)

Pyrin/marenostrin mutations in familial Mediterranean fever. (4/7123)

Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis. It is principally recognized in certain Mediterranean populations, and the diagnosis depends on clinical features. Four mutations strongly linked to FMF have lately been identified in a gene encoding a novel protein that has been named pyrin or marenostrin. We studied 27 consecutive patients of varied ethnic origin, including an English man, who had classical, probable or possible FMF. Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. Two new mutations, T6811 and delta M694, were discovered in addition to the four described previously. No mutations were identified in three of the four patients with possible FMF. Nine patients had AA amyloidosis, but this association was not restricted to any particular genotype. Most patients with FMF have mutations in both pyrin/marenostrin alleles, and genotyping at this locus is a valuable diagnostic test. Unidentified second mutations are likely to occur in FMF patients who have apparently solitary mutations, and therefore genotype results must be interpreted in conjunction with the clinical picture.  (+info)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (5/7123)

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.  (+info)

Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. (6/7123)

BACKGROUND: Cytokine gene variations are contributory factors in inflammatory pathology. Allele frequencies of interleukin (IL)-1 cluster genes [IL-1A(-889), IL-1B(-511), IL-1B(+3953), IL-1RN Intron 2 VNTR] and tissue necrosis factor (TNF)-alpha gene [TNFA(-308)] were measured in healthy blood donors (healthy control subjects), patients with angiographically normal coronary arteries (patient control subjects), single-vessel coronary disease (SVD), and those with multivessel coronary disease (MVD). METHODS AND RESULTS: Five hundred fifty-six patients attending for coronary angiography in Sheffield were studied: 130 patient control subjects, 98 SVD, and 328 MVD. Significant associations were tested in an independent population (London) of 350: 57 SVD, 191 MVD, and 102 control subjects. IL-1RN*2 frequency in Sheffield patient control subjects was the same as in 827 healthy control subjects. IL-1RN*2 was significantly overrepresented in Sheffield SVD patients (34% vs 23% in patient control subjects); IL-1RN*2 homozygotes in the SVD population (chi2 carriage=8.490, 1 df, P=0.0036). This effect was present though not quite significant in the London population (P=0. 0603). A summary trend test of the IL-1RN SVD genotype data for Sheffield and London showed a significant association with *2 (P=0. 0024). No significant effect of genotype at IL-1RN was observed in the Sheffield or London MVD populations. Genotype distribution analysis comparing the SVD and MVD populations at IL-1RN showed a highly significant trend (P=0.0007) with the use of pooled data. No significant associations were seen for the other polymorphisms. CONCLUSIONS: IL-1RN*2 was significantly associated with SVD. A difference in genetic association between SVD and MVD was also apparent.  (+info)

Effect of MTHFR 677C>T on plasma total homocysteine levels in renal graft recipients. (7/7123)

BACKGROUND: Hyperhomocysteinemia is an established, independent risk factor for vascular disease morbidity and mortality. The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism C677T has been shown to result in increased total homocysteine concentrations on the basis of low folate levels caused by a decreased enzyme activity. The effect of this polymorphism on total homocysteine and folate plasma levels in renal transplant patients is unknown. METHODS: We screened 636 kidney graft recipients for the presence of the MTHFR C677T gene polymorphism. The major determinants of total homocysteine and folate plasma concentrations of 63 patients, who were identified to be homozygous for this gene polymorphism compared with heterozygotes (N = 63), and patients with wild-type alleles (N = 63), who were matched for sex, age, glomerular filtration rate (GFR), and body mass index, were identified by analysis of covariance. The variables included sex, age, GFR, body mass index, time since transplantation, folate and vitamin B12 levels, the use of azathioprine, and the MTHFR genotype. To investigate the impact of the kidney donor MTHFR genotype on total homocysteine and folate plasma concentrations, a similar model was applied in 111 kidney graft recipients with stable graft function, in whom the kidney donor C677T MTHFR gene polymorphism was determined. RESULTS: The allele frequency of the C677T polymorphism in the MTHFR gene was 0.313 in the whole study population [wild-type (CC), 301; heterozygous (CT), 272; and homozygous mutant (TT), 63 patients, respectively] and showed no difference in the patient subgroups with various renal diseases. The MTHFR C677T gene polymorphism significantly influenced total homocysteine and folate plasma concentrations in renal transplant recipients (P = 0.0009 and P = 0.0002, respectively). Furthermore, a significant influence of the GFR (P = 0.0001), folate levels (P = 0.0001), age (P = 0.0001), body mass index (P = 0.0001), gender (P = 0.0005), and vitamin B12 levels (P = 0.004) on total homocysteine concentrations was observed. The donor MTHFR gene polymorphism had no influence on total homocysteine and folate levels. Geometric mean total homocysteine levels in patients homozygous for the mutant MTHFR allele were 18.6 micromol/liter compared with 14.6 micromol/liter and 14.9 micromol/liter in patients heterozygous for the MTHFR gene polymorphism and those with wild-type alleles (P < 0.05 for TT vs. CT and CC). Geometric mean folate levels were lower in CT and TT patients (11.2 and 10.2 nmol/liter) compared with CC patients (13.6 nmol/liter, P < 0.05 vs. CT and TT). CONCLUSIONS: This study demonstrates that homozygosity for the C677T polymorphism in the MTHFR gene significantly increases total homocysteine concentrations and lowers folate levels in kidney graft recipients, even in patients with excellent renal function (GFR more than median). These findings have important implications for risk evaluation and vitamin intervention therapy in these patients who carry an increased risk for the development of cardiovascular disease.  (+info)

Prospective evaluation of the thrombotic risk in children with acute lymphoblastic leukemia carrying the MTHFR TT 677 genotype, the prothrombin G20210A variant, and further prothrombotic risk factors. (8/7123)

The reported incidence of thromboembolism in children with acute lymphoblastic leukemia (ALL) treated with L-asparaginase, vincristine, and prednisone varies from 2.4% to 11.5%. The present study was designed to prospectively evaluate the role of the TT677 methylenetetrahydrofolate reductase (MTHFR) genotype, the prothrombin G20210A mutation, the factor V G1691A mutation, deficiencies of protein C, protein S, antithrombin, and increased lipoprotein (a) concentrations in leukemic children treated according to the ALL-Berlin-Frankfurt-Muenster (BFM) 90/95 study protocols with respect to the onset of vascular events. Three hundred and one consecutive leukemic children were enrolled in this study. Fifty-five of these 301 subjects investigated had one established single prothrombotic risk factor: 20 children showed the TT677 MTHFR genotype; 5 showed the heterozygous prothrombin G20210A variant; 11 were carriers of the factor V G1691A mutation (heterozygous, n = 10; homozygous, n = 1); 4 showed familial protein C, 4 protein S, and 2 antithrombin type I deficiency; 9 patients were suffering from familially increased lipoprotein (a) [Lp(a)] concentrations (>30 mg/dL). In addition, combined prothrombotic defects were found in a further 10 patients: the FV mutation was combined with the prothrombin G20210A variant (n = 1), increased Lp(a) (n = 3), protein C deficiency (n = 1), and homozygosity for the C677T MTHFR gene mutation (n = 1). Lp(a) was combined with protein C deficiency (n = 2) and the MTHFR TT 677 genotype (n = 2). Two hundred eighty-nine of the 301 patients were available for thrombosis-free survival analysis. In 32 (11%) of these 289 patients venous thromboembolism occurred. The overall thrombosis-free survival in patients with at least one prothrombotic defect was significantly reduced compared with patients without a prothrombotic defect within the hemostatic system (P <.0001). In addition, a clear-cut positive correlation (P <.0001) was found between thrombosis and the use of central lines. However, because the prothrombotic defects diagnosed in the total childhood population studied were all found within the prevalences reported for healthy Caucasian individuals, the interaction between prothrombotic risk factors, ALL treatment, and further environmental factors is likely to cause thrombotic manifestations.  (+info)

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Hemochromatosis is a medical condition characterized by excessive absorption and accumulation of iron in the body, resulting in damage to various organs. It's often referred to as "iron overload" disorder. There are two main types: primary (hereditary) and secondary (acquired). Primary hemochromatosis is caused by genetic mutations that lead to increased intestinal iron absorption, while secondary hemochromatosis can be the result of various conditions such as multiple blood transfusions, chronic liver disease, or certain types of anemia.

In both cases, the excess iron gets stored in body tissues, particularly in the liver, heart, and pancreas, which can cause organ damage and lead to complications like cirrhosis, liver failure, diabetes, heart problems, and skin discoloration. Early diagnosis and treatment through regular phlebotomy (blood removal) or chelation therapy can help manage the condition and prevent severe complications.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

A lethal gene is a type of gene that causes the death of an organism or prevents it from surviving to maturity. This can occur when the gene contains a mutation that disrupts the function of a protein essential for the organism's survival. In some cases, the presence of two copies of a lethal gene (one inherited from each parent) can result in a condition that is incompatible with life, and the organism will not survive beyond embryonic development or shortly after birth.

Lethal genes can also contribute to genetic disorders, where the disruption of protein function caused by the mutation leads to progressive degeneration and ultimately death. In some cases, lethal genes may only cause harm when expressed in certain tissues or at specific stages of development, leading to a range of phenotypes from embryonic lethality to adult-onset disorders.

It's important to note that the term "lethal" is relative and can depend on various factors such as genetic background, environmental conditions, and the presence of modifier genes. Additionally, some lethal genes may be targeted for gene editing or other therapeutic interventions to prevent their harmful effects.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

Apolipoprotein E2 (ApoE2) is one of the three major isoforms of the apolipoprotein E (ApoE) protein, which is a component of lipoproteins that are involved in the transport and metabolism of cholesterol and other fats in the body. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4.

The ApoE2 protein is encoded by the ε2 allele of the APOE gene. Compared to the other two isoforms (ApoE3 and ApoE4), ApoE2 has a different amino acid at position 112, where it has a cysteine instead of an arginine. This difference affects the protein's ability to interact with other molecules involved in lipid metabolism, such as the low-density lipoprotein receptor (LDLR).

Individuals who inherit two copies of the ε2 allele (ε2/ε2) have a higher risk of developing type III hyperlipoproteinemia, also known as dysbetalipoproteinemia, which is characterized by elevated levels of cholesterol and triglycerides in the blood due to impaired clearance of remnant lipoproteins. However, not all people with the ε2/ε2 genotype develop type III hyperlipoproteinemia, and other genetic and environmental factors may contribute to the development of this condition.

It's worth noting that having one or two copies of the ε2 allele has been associated with a reduced risk of developing Alzheimer's disease, although the mechanism by which ApoE2 protects against Alzheimer's is not fully understood.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Catechol-O-methyltransferase (COMT) is an enzyme that plays a role in the metabolism of catecholamines, which are neurotransmitters and hormones such as dopamine, norepinephrine, and epinephrine. COMT mediates the transfer of a methyl group from S-adenosylmethionine (SAM) to a catechol functional group in these molecules, resulting in the formation of methylated products that are subsequently excreted.

The methylation of catecholamines by COMT regulates their concentration and activity in the body, and genetic variations in the COMT gene can affect enzyme function and contribute to individual differences in the metabolism of these neurotransmitters. This has been implicated in various neurological and psychiatric conditions, including Parkinson's disease, schizophrenia, and attention deficit hyperactivity disorder (ADHD).

Albinism is a group of genetic disorders that result in little or no production of melanin, the pigment responsible for coloring skin, hair, and eyes. It is caused by mutations in genes involved in the production of melanin. There are several types of albinism, including oculocutaneous albinism (OCA) and ocular albinism (OA). OCA affects the skin, hair, and eyes, while OA primarily affects the eyes.

People with albinism typically have very pale skin, white or light-colored hair, and light-colored eyes. They may also have vision problems, such as sensitivity to light (photophobia), rapid eye movements (nystagmus), and decreased visual acuity. The severity of these symptoms can vary depending on the type and extent of albinism.

Albinism is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition. If both parents are carriers of a mutated gene for albinism, they have a 25% chance with each pregnancy of having a child with albinism.

There is no cure for albinism, but individuals with the condition can take steps to protect their skin and eyes from the sun and use visual aids to help with vision problems. It is important for people with albinism to undergo regular eye examinations and to use sun protection, such as sunscreen, hats, and sunglasses, to prevent skin damage and skin cancer.

Hyperlipoproteinemia Type II, also known as Fredrickson Type II or Familial Combined Hyperlipidemia, is a genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol and/or triglycerides in the blood. This condition can lead to an increased risk of developing cardiovascular diseases such as atherosclerosis and coronary artery disease.

The disorder is caused by mutations in several genes involved in lipid metabolism, including APOB, LDLR, PCSK9, and APOE. These genetic defects result in impaired clearance of LDL particles from the bloodstream, leading to their accumulation and increased risk of cardiovascular disease.

Individuals with Hyperlipoproteinemia Type II typically have elevated levels of both LDL cholesterol and triglycerides, although some may only have one or the other elevated. The disorder can present at any age, but it is often diagnosed in adulthood during routine cholesterol screening.

Treatment for Hyperlipoproteinemia Type II typically involves lifestyle modifications such as a heart-healthy diet, regular exercise, and weight loss. Medications such as statins, ezetimibe, and PCSK9 inhibitors may also be prescribed to lower LDL cholesterol levels and reduce the risk of cardiovascular disease.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

"Genetic crosses" refer to the breeding of individuals with different genetic characteristics to produce offspring with specific combinations of traits. This process is commonly used in genetics research to study the inheritance patterns and function of specific genes.

There are several types of genetic crosses, including:

1. Monohybrid cross: A cross between two individuals that differ in the expression of a single gene or trait.
2. Dihybrid cross: A cross between two individuals that differ in the expression of two genes or traits.
3. Backcross: A cross between an individual from a hybrid population and one of its parental lines.
4. Testcross: A cross between an individual with unknown genotype and a homozygous recessive individual.
5. Reciprocal cross: A cross in which the male and female parents are reversed to determine if there is any effect of sex on the expression of the trait.

These genetic crosses help researchers to understand the mode of inheritance, linkage, recombination, and other genetic phenomena.

Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.

The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.

It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

The term "Asian Continental Ancestry Group" is a medical/ethnic classification used to describe a person's genetic background and ancestry. According to this categorization, individuals with origins in the Asian continent are grouped together. This includes populations from regions such as East Asia (e.g., China, Japan, Korea), South Asia (e.g., India, Pakistan, Bangladesh), Southeast Asia (e.g., Philippines, Indonesia, Thailand), and Central Asia (e.g., Kazakhstan, Uzbekistan, Tajikistan). It is important to note that this broad categorization may not fully capture the genetic diversity within these regions or accurately reflect an individual's specific ancestral origins.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

The term "European Continental Ancestry Group" is a medical/ethnic classification that refers to individuals who trace their genetic ancestry to the continent of Europe. This group includes people from various ethnic backgrounds and nationalities, such as Northern, Southern, Eastern, and Western European descent. It is often used in research and medical settings for population studies or to identify genetic patterns and predispositions to certain diseases that may be more common in specific ancestral groups. However, it's important to note that this classification can oversimplify the complex genetic diversity within and between populations, and should be used with caution.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Hyperlipoproteinemia Type III, also known as Broad Beta Disease or Remnant Hyperlipidemia, is a genetic disorder characterized by an increased level of chylomicron remnants and intermediate-density lipoproteins (IDL) in the blood. This results in elevated levels of both low-density lipoprotein (LDL), or "bad" cholesterol, and triglycerides, and decreased levels of high-density lipoprotein (HDL), or "good" cholesterol. The condition can lead to premature atherosclerosis and an increased risk for cardiovascular disease. It is caused by mutations in the APOE gene, which encodes the apolipoprotein E protein, leading to abnormal clearance of lipoproteins from the blood.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

An amino acid substitution is a type of mutation in which one amino acid in a protein is replaced by another. This occurs when there is a change in the DNA sequence that codes for a particular amino acid in a protein. The genetic code is redundant, meaning that most amino acids are encoded by more than one codon (a sequence of three nucleotides). As a result, a single base pair change in the DNA sequence may not necessarily lead to an amino acid substitution. However, if a change does occur, it can have a variety of effects on the protein's structure and function, depending on the nature of the substituted amino acids. Some substitutions may be harmless, while others may alter the protein's activity or stability, leading to disease.

Histocompatibility antigens, class I are proteins found on the surface of most cells in the body. They play a critical role in the immune system's ability to differentiate between "self" and "non-self." These antigens are composed of three polypeptides - two heavy chains and one light chain - and are encoded by genes in the major histocompatibility complex (MHC) on chromosome 6 in humans.

Class I MHC molecules present peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T cells. This presentation allows the immune system to detect and destroy cells that have been infected by viruses or other intracellular pathogens, or that have become cancerous.

There are three main types of class I MHC molecules in humans: HLA-A, HLA-B, and HLA-C. The term "HLA" stands for human leukocyte antigen, which reflects the original identification of these proteins on white blood cells (leukocytes). The genes encoding these molecules are highly polymorphic, meaning there are many different variants in the population, and matching HLA types is essential for successful organ transplantation to minimize the risk of rejection.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

Gaucher disease is an inherited metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a complex fatty substance called glucocerebroside, found in the cells of various tissues throughout the body. When the enzyme is not present in sufficient quantities or is entirely absent, glucocerebroside accumulates inside the lysosomes (cellular organelles responsible for waste material breakdown) of certain cell types, particularly within white blood cells called macrophages. This buildup of lipids leads to the formation of characteristic lipid-laden cells known as Gaucher cells.

There are three main types of Gaucher disease, classified based on the absence or presence and severity of neurological symptoms:

1. Type 1 (non-neuronopathic) - This is the most common form of Gaucher disease, accounting for approximately 95% of cases. It primarily affects the spleen, liver, and bone marrow but does not typically involve the central nervous system. Symptoms may include an enlarged spleen and/or liver, low red blood cell counts (anemia), low platelet counts (thrombocytopenia), bone pain and fractures, and fatigue.
2. Type 2 (acute neuronopathic) - This rare and severe form of Gaucher disease affects both visceral organs and the central nervous system. Symptoms usually appear within the first six months of life and progress rapidly, often leading to death before two years of age due to neurological complications.
3. Type 3 (subacute neuronopathic) - This form of Gaucher disease affects both visceral organs and the central nervous system but has a slower progression compared to type 2. Symptoms may include those seen in type 1, as well as neurological issues such as seizures, eye movement abnormalities, and cognitive decline.

Gaucher disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the gene (one from each parent) to develop the condition. Treatment options for Gaucher disease include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and chaperone therapy, depending on the type and severity of the disease.

Apolipoprotein E (ApoE) is a protein involved in the metabolism of lipids, particularly cholesterol. It is produced primarily by the liver and is a component of several types of lipoproteins, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL).

ApoE plays a crucial role in the transport and uptake of lipids in the body. It binds to specific receptors on cell surfaces, facilitating the delivery of lipids to cells for energy metabolism or storage. ApoE also helps to clear cholesterol from the bloodstream and is involved in the repair and maintenance of tissues.

There are three major isoforms of ApoE, designated ApoE2, ApoE3, and ApoE4, which differ from each other by only a few amino acids. These genetic variations can have significant effects on an individual's risk for developing certain diseases, particularly cardiovascular disease and Alzheimer's disease. For example, individuals who inherit the ApoE4 allele have an increased risk of developing Alzheimer's disease, while those with the ApoE2 allele may have a reduced risk.

In summary, Apolipoprotein E is a protein involved in lipid metabolism and transport, and genetic variations in this protein can influence an individual's risk for certain diseases.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Xanthomatosis is a medical term that refers to the condition characterized by the presence of xanthomas, which are yellowish, fat-laden deposits that form under the skin or in other tissues. These deposits consist of lipids, such as cholesterol and triglycerides, and immune cells called macrophages, which have engulfed the lipids.

Xanthomas can occur in various parts of the body, including the eyelids, tendons, joints, and other areas with connective tissue. They may appear as small papules or larger nodules, and their size and number can vary depending on the severity of the underlying disorder.

Xanthomatosis is often associated with genetic disorders that affect lipid metabolism, such as familial hypercholesterolemia, or with acquired conditions that cause high levels of lipids in the blood, such as diabetes, hypothyroidism, and certain liver diseases. Treatment typically involves addressing the underlying disorder and controlling lipid levels through dietary changes, medications, or a combination of both.

Hemoglobin E (HbE) is a structural variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant results from a specific mutation in the beta-globin gene, leading to the substitution of glutamic acid with lysine at position 26 of the beta-globin chain.

HbE is most commonly found in people from Southeast Asia, particularly in populations from Thailand, Cambodia, and Laos. It can also be found in other parts of the world, such as India, Bangladesh, and Pakistan. HbE is usually asymptomatic when it occurs in its heterozygous form (one normal beta-globin gene and one HbE gene). However, when it occurs in the homozygous form (two HbE genes), or in combination with other hemoglobinopathies like thalassemia, it can lead to a range of clinical manifestations, including mild to severe microcytic anemia, splenomegaly, and jaundice.

Individuals with HbE may have increased susceptibility to certain infections and may experience complications during pregnancy or surgery due to impaired oxygen-carrying capacity. Regular monitoring of hemoglobin levels, iron status, and potential complications is essential for managing individuals with Hemoglobin E effectively.

I'm sorry for any confusion, but "hair color" is not a term that has a medical definition in the same way that a term like "myocardial infarction" (heart attack) does. Hair color can be described in various ways, such as being a natural hair color (like blonde, brunette, red, or black) or describing a change in hair color due to factors like aging (gray or white hairs) or hair dye usage.

However, it's worth noting that changes in hair color can sometimes be associated with certain medical conditions. For example, premature graying of the hair before the age of 30 can be a feature of certain genetic disorders or vitamin B12 deficiency. Similarly, some skin conditions like alopecia areata or vitiligo can cause patchy changes in hair color. But these associations don't provide a medical definition for 'hair color'.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Ethylnitrosourea (ENU) is an alkylating agent, which is a type of chemical compound that has the ability to interact with and modify the structure of DNA. It is commonly used in laboratory research as a mutagen, which is a substance that increases the frequency of mutations or changes in the genetic material of organisms.

ENU is known to cause point mutations, which are small changes in the DNA sequence that can lead to alterations in the function of genes. This property makes ENU a valuable tool for studying gene function and for creating animal models of human diseases caused by genetic mutations.

It is important to note that ENU is a potent carcinogen, meaning it can cause cancer, and should be handled with care in laboratory settings. It is not used as a medical treatment in humans or animals.

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

Oxidoreductases acting on CH-NH group donors are a class of enzymes within the larger group of oxidoreductases, which are responsible for catalyzing oxidation-reduction reactions. Specifically, this subclass of enzymes acts on CH-NH group donors, where the CH-NH group is a chemical functional group consisting of a carbon atom (C) bonded to a nitrogen atom (N) via a single covalent bond.

These enzymes play a crucial role in various biological processes by transferring electrons from the CH-NH group donor to an acceptor molecule, which results in the oxidation of the donor and reduction of the acceptor. This process can lead to the formation or breakdown of chemical bonds, and plays a key role in metabolic pathways such as amino acid degradation and nitrogen fixation.

Examples of enzymes that fall within this class include:

* Amino oxidases, which catalyze the oxidative deamination of amino acids to produce alpha-keto acids, ammonia, and hydrogen peroxide.
* Transaminases, which transfer an amino group from one molecule to another, often in the process of amino acid biosynthesis or degradation.
* Amine oxidoreductases, which catalyze the oxidation of primary amines to aldehydes and secondary amines to ketones, with the concomitant reduction of molecular oxygen to hydrogen peroxide.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Alpha 1-Antitrypsin (AAT) deficiency is a genetic disorder that results from insufficient levels of the protective protein AAT in the blood and lungs. This protein is produced by the liver and helps to protect the lungs from damage caused by inflammation and the action of enzymes, such as neutrophil elastase, that are released during the immune response.

In people with AAT deficiency, the lack of adequate AAT levels leads to an uncontrolled increase in neutrophil elastase activity, which can cause damage to lung tissue and result in emphysema, a condition characterized by shortness of breath, coughing, and wheezing. Additionally, some individuals with AAT deficiency may develop liver disease due to the accumulation of abnormal AAT proteins in liver cells.

There are different variants or genotypes associated with AAT deficiency, with the most common and severe form being the PiZZ genotype. This variant is caused by mutations in the SERPINA1 gene, which encodes for the AAT protein. Individuals who inherit two copies of this mutated gene (one from each parent) will have very low levels of AAT in their blood and are at increased risk of developing emphysema and liver disease.

Diagnosis of AAT deficiency typically involves measuring AAT levels in the blood and performing genetic testing to identify specific variants of the SERPINA1 gene. Treatment may include lifestyle modifications, such as smoking cessation, bronchodilators, and corticosteroids to manage lung symptoms, as well as augmentation therapy with intravenous infusions of AAT protein to help slow disease progression in individuals with severe deficiency. Liver transplantation may be considered for those with advanced liver disease.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Apolipoprotein A (apoA) is a type of apolipoprotein that is primarily associated with high-density lipoproteins (HDL), often referred to as "good cholesterol." There are several subtypes of apoA, including apoA-I, apoA-II, and apoA-IV.

ApoA-I is the major protein component of HDL particles and plays a crucial role in reverse cholesterol transport, which is the process by which excess cholesterol is removed from tissues and delivered to the liver for excretion. Low levels of apoA-I have been linked to an increased risk of cardiovascular disease.

ApoA-II is another protein component of HDL particles, although its function is less well understood than that of apoA-I. Some studies suggest that apoA-II may play a role in regulating the metabolism of HDL particles.

ApoA-IV is found in both HDL and chylomicrons, which are lipoprotein particles that transport dietary lipids from the intestine to the liver. The function of apoA-IV is not well understood, but it may play a role in regulating appetite and energy metabolism.

Overall, apolipoproteins A are important components of HDL particles and play a critical role in maintaining healthy lipid metabolism and reducing the risk of cardiovascular disease.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Population Genetics is a subfield of genetics that deals with the genetic composition of populations and how this composition changes over time. It involves the study of the frequency and distribution of genes and genetic variations in populations, as well as the evolutionary forces that contribute to these patterns, such as mutation, gene flow, genetic drift, and natural selection.

Population genetics can provide insights into a wide range of topics, including the history and relationships between populations, the genetic basis of diseases and other traits, and the potential impacts of environmental changes on genetic diversity. This field is important for understanding evolutionary processes at the population level and has applications in areas such as conservation biology, medical genetics, and forensic science.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

Valine is an essential amino acid, meaning it cannot be produced by the human body and must be obtained through diet. It is a hydrophobic amino acid, with a branched side chain, and is necessary for the growth, repair, and maintenance of tissues in the body. Valine is also important for muscle metabolism, and is often used by athletes as a supplement to enhance physical performance. Like other essential amino acids, valine must be obtained through foods such as meat, fish, dairy products, and legumes.

The odds ratio (OR) is a statistical measure used in epidemiology and research to estimate the association between an exposure and an outcome. It represents the odds that an event will occur in one group versus the odds that it will occur in another group, assuming that all other factors are held constant.

In medical research, the odds ratio is often used to quantify the strength of the relationship between a risk factor (exposure) and a disease outcome. An OR of 1 indicates no association between the exposure and the outcome, while an OR greater than 1 suggests that there is a positive association between the two. Conversely, an OR less than 1 implies a negative association.

It's important to note that the odds ratio is not the same as the relative risk (RR), which compares the incidence rates of an outcome in two groups. While the OR can approximate the RR when the outcome is rare, they are not interchangeable and can lead to different conclusions about the association between an exposure and an outcome.

Serotonin plasma membrane transport proteins, also known as serotonin transporters (SERTs), are membrane-spanning proteins that play a crucial role in the regulation of serotonergic neurotransmission. They are responsible for the reuptake of serotonin (5-hydroxytryptamine or 5-HT) from the synaptic cleft back into the presynaptic neuron, thereby terminating the signal transmission and allowing for its recycling or degradation.

Structurally, SERTs belong to the family of sodium- and chloride-dependent neurotransmitter transporters and contain 12 transmembrane domains with intracellular N- and C-termini. The binding site for serotonin is located within the transmembrane domain, while the substrate-binding site is formed by residues from both the transmembrane and extracellular loops.

Serotonin transporters are important targets for various psychotropic medications, including selective serotonin reuptake inhibitors (SSRIs), tricyclic antidepressants (TCAs), and monoamine oxidase inhibitors (MAOIs). These drugs act by blocking the SERT, increasing synaptic concentrations of serotonin, and enhancing serotonergic neurotransmission. Dysregulation of serotonin transporters has been implicated in several neurological and psychiatric disorders, such as major depressive disorder, anxiety disorders, obsessive-compulsive disorder, and substance abuse.

Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.

The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.

It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.

Transferrin is a glycoprotein that plays a crucial role in the transport and homeostasis of iron in the body. It's produced mainly in the liver and has the ability to bind two ferric (Fe3+) ions in its N-lobe and C-lobe, thus creating transferrin saturation.

This protein is essential for delivering iron to cells while preventing the harmful effects of free iron, which can catalyze the formation of reactive oxygen species through Fenton reactions. Transferrin interacts with specific transferrin receptors on the surface of cells, particularly in erythroid precursors and brain endothelial cells, to facilitate iron uptake via receptor-mediated endocytosis.

In addition to its role in iron transport, transferrin also has antimicrobial properties due to its ability to sequester free iron, making it less available for bacterial growth and survival. Transferrin levels can be used as a clinical marker of iron status, with decreased levels indicating iron deficiency anemia and increased levels potentially signaling inflammation or liver disease.

Eye color is a characteristic determined by variations in a person's genes. The color of the eyes depends on the amount and type of pigment called melanin found in the eye's iris.

There are three main types of eye colors: brown, blue, and green. Brown eyes have the most melanin, while blue eyes have the least. Green eyes have a moderate amount of melanin combined with a golden tint that reflects light to give them their unique color.

Eye color is a polygenic trait, which means it is influenced by multiple genes. The two main genes responsible for eye color are OCA2 and HERC2, both located on chromosome 15. These genes control the production, transport, and storage of melanin in the iris.

It's important to note that eye color can change during infancy and early childhood due to the development of melanin in the iris. Additionally, some medications or medical conditions may also cause changes in eye color over time.

Peptidyl-dipeptidase A is more commonly known as angiotensin-converting enzyme (ACE). It is a key enzyme in the renin-angiotensin-aldosterone system (RAAS), which regulates blood pressure and fluid balance.

ACE is a membrane-bound enzyme found primarily in the lungs, but also in other tissues such as the heart, kidneys, and blood vessels. It plays a crucial role in converting the inactive decapeptide angiotensin I into the potent vasoconstrictor octapeptide angiotensin II, which constricts blood vessels and increases blood pressure.

ACE also degrades the peptide bradykinin, which is involved in the regulation of blood flow and vascular permeability. By breaking down bradykinin, ACE helps to counteract its vasodilatory effects, thereby maintaining blood pressure homeostasis.

Inhibitors of ACE are widely used as medications for the treatment of hypertension, heart failure, and diabetic kidney disease, among other conditions. These drugs work by blocking the action of ACE, leading to decreased levels of angiotensin II and increased levels of bradykinin, which results in vasodilation, reduced blood pressure, and improved cardiovascular function.

Apolipoprotein E (APOE) is a gene that provides instructions for making a protein involved in the metabolism of fats called lipids. One variant of this gene, APOE4, is associated with an increased risk of developing Alzheimer's disease and other forms of dementia.

The APOE4 allele (variant) is less efficient at clearing beta-amyloid protein, a component of the amyloid plaques found in the brains of people with Alzheimer's disease. This can lead to an accumulation of beta-amyloid and an increased risk of developing Alzheimer's disease.

It is important to note that having one or two copies of the APOE4 allele does not mean that a person will definitely develop Alzheimer's disease, but it does increase the risk. Other factors, such as age, family history, and the presence of other genetic variants, also contribute to the development of this complex disorder.

Apolipoprotein C-III (APOC3) is a protein that is produced in the liver and circulates in the bloodstream. It is a component of certain lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for transporting fat molecules, such as triglycerides and cholesterol, throughout the body.

APOC3 plays a role in regulating the metabolism of these lipoproteins. Specifically, it inhibits the activity of an enzyme called lipoprotein lipase, which breaks down triglycerides in VLDL and chylomicrons. As a result, high levels of APOC3 can lead to an increase in triglyceride levels in the blood, which is a risk factor for cardiovascular disease.

Genetic variations in the APOC3 gene have been associated with differences in triglyceride levels and risk of cardiovascular disease. Some studies have suggested that reducing APOC3 levels through genetic editing or other means may be a promising strategy for lowering triglycerides and reducing the risk of heart disease.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Polycythemia is a medical condition characterized by an abnormal increase in the total red blood cell (RBC) mass or hematocrit (the percentage of RBCs in the blood). This results in a higher-than-normal viscosity of the blood, which can lead to various complications such as impaired circulation, increased risk of blood clots, and reduced oxygen supply to the tissues.

There are two main types of polycythemia: primary and secondary. Primary polycythemia, also known as polycythemia vera, is a rare myeloproliferative neoplasm caused by genetic mutations that lead to excessive production of RBCs in the bone marrow. Secondary polycythemia, on the other hand, is a reactive condition triggered by various factors such as chronic hypoxia (low oxygen levels), high altitude, smoking, or certain medical conditions like sleep apnea, heart disease, or kidney tumors.

Symptoms of polycythemia may include fatigue, headaches, dizziness, shortness of breath, itching, and a bluish or reddish tint to the skin (cyanosis). Treatment depends on the underlying cause and severity of the condition and may involve phlebotomy, medications to reduce RBC production, and management of associated complications.

A codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies the insertion of a particular amino acid during protein synthesis, or signals the beginning or end of translation. In DNA, these triplets are read during transcription to produce a complementary mRNA molecule, which is then translated into a polypeptide chain during translation. There are 64 possible codons in the standard genetic code, with 61 encoding for specific amino acids and three serving as stop codons that signal the termination of protein synthesis.

Hypolipoproteinemias are a group of genetic disorders characterized by low levels of lipoproteins in the blood. Lipoproteins are complex particles composed of proteins and lipids that play a crucial role in the transport and metabolism of fat molecules, such as cholesterol and triglycerides, in the body.

There are several types of hypolipoproteinemias, each associated with deficiencies in specific lipoproteins:

1. Hypobetalipoproteinemia: This disorder is characterized by low levels of beta-lipoproteins, also known as low-density lipoproteins (LDL), or "bad" cholesterol. It can lead to decreased absorption of fat-soluble vitamins and an increased risk of fatty liver disease.
2. Abetalipoproteinemia: This is a rare autosomal recessive disorder characterized by the absence of beta-lipoproteins and apolipoprotein B, which results in very low levels of LDL cholesterol and high-density lipoproteins (HDL), or "good" cholesterol. It can lead to fat malabsorption, neurological symptoms, and retinal degeneration.
3. Tangier disease: This disorder is caused by a deficiency in apolipoprotein A-I and results in low levels of HDL cholesterol. It can cause enlarged orange-colored tonsils, neuropathy, and an increased risk of coronary artery disease.
4. Familial hypoalphalipoproteinemia: This disorder is characterized by low levels of HDL cholesterol due to a deficiency in apolipoprotein A-I or A-II. It can increase the risk of premature coronary artery disease.

It's important to note that while some hypolipoproteinemias are associated with an increased risk of cardiovascular disease, others may actually protect against it due to reduced levels of atherogenic lipoproteins. Treatment for these disorders typically involves dietary modifications and supplementation of fat-soluble vitamins and essential fatty acids. In some cases, medication may be necessary to manage symptoms or prevent complications.

Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.

There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.

Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.

Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.

Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.

Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.

High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.

It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.

Embryo loss is a medical term that refers to the miscarriage or spontaneous abortion of an embryo, which is the developing offspring from the time of fertilization until the end of the eighth week of pregnancy. Embryo loss can occur at any point during this period and may be caused by various factors such as chromosomal abnormalities, maternal health issues, infections, environmental factors, or lifestyle habits.

Embryo loss is a common occurrence, with up to 30% of pregnancies ending in miscarriage, many of which happen before the woman even realizes she is pregnant. In most cases, embryo loss is a natural process that occurs when the body detects an abnormality or problem with the developing embryo and terminates the pregnancy to prevent further complications. However, recurrent embryo loss can be a sign of underlying medical issues and may require further evaluation and treatment.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

The Czech Republic is a country located in Central Europe. It is not a medical term or concept, so it does not have a specific medical definition. However, like any other country, the Czech Republic has its own healthcare system and medical facilities that provide various health services to its population. The Czech Republic is known for its high-quality healthcare and medical education, with many institutions being recognized worldwide.

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

'Drosophila melanogaster' is the scientific name for a species of fruit fly that is commonly used as a model organism in various fields of biological research, including genetics, developmental biology, and evolutionary biology. Its small size, short generation time, large number of offspring, and ease of cultivation make it an ideal subject for laboratory studies. The fruit fly's genome has been fully sequenced, and many of its genes have counterparts in the human genome, which facilitates the understanding of genetic mechanisms and their role in human health and disease.

Here is a brief medical definition:

Drosophila melanogaster (droh-suh-fih-luh meh-lon-guh-ster): A species of fruit fly used extensively as a model organism in genetic, developmental, and evolutionary research. Its genome has been sequenced, revealing many genes with human counterparts, making it valuable for understanding genetic mechanisms and their role in human health and disease.

Neurologic mutant mice are genetically engineered or spontaneously mutated rodents that are used as models to study various neurological disorders and conditions. These mice have specific genetic modifications or mutations that affect their nervous system, leading to phenotypes that resemble human neurological diseases.

Some examples of neurologic mutant mice include:

1. Alzheimer's disease models: Mice that overexpress genes associated with Alzheimer's disease, such as the amyloid precursor protein (APP) or presenilin 1 (PS1), to study the pathogenesis and potential treatments of this disorder.
2. Parkinson's disease models: Mice that have genetic mutations in genes associated with Parkinson's disease, such as alpha-synuclein or parkin, to investigate the mechanisms underlying this condition and develop new therapies.
3. Huntington's disease models: Mice that carry an expanded CAG repeat in the huntingtin gene to replicate the genetic defect seen in humans with Huntington's disease and study disease progression and treatment strategies.
4. Epilepsy models: Mice with genetic mutations that cause spontaneous seizures or increased susceptibility to seizures, used to investigate the underlying mechanisms of epilepsy and develop new treatments.
5. Stroke models: Mice that have surgical induction of stroke or genetic modifications that increase the risk of stroke, used to study the pathophysiology of stroke and identify potential therapeutic targets.

Neurologic mutant mice are essential tools in biomedical research, allowing scientists to investigate the complex interactions between genes and the environment that contribute to neurological disorders. These models help researchers better understand disease mechanisms, develop new therapies, and test their safety and efficacy before moving on to clinical trials in humans.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

In the context of medicine, risk is the probability or likelihood of an adverse health effect or the occurrence of a negative event related to treatment or exposure to certain hazards. It is usually expressed as a ratio or percentage and can be influenced by various factors such as age, gender, lifestyle, genetics, and environmental conditions. Risk assessment involves identifying, quantifying, and prioritizing risks to make informed decisions about prevention, mitigation, or treatment strategies.

Gilbert's disease, also known as Gilbert's syndrome, is a common and mild condition characterized by **intermittent** elevations in bilirubin levels in the bloodstream without any evidence of liver damage or disease. Bilirubin is a yellowish pigment that forms when hemoglobin breaks down. Normally, it gets processed in the liver and excreted through bile.

In Gilbert's disease, there is an impaired ability to conjugate bilirubin due to a deficiency or dysfunction of the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1), which is responsible for the glucuronidation process. This results in mild unconjugated hyperbilirubinemia, where bilirubin levels may rise and cause mild jaundice, particularly during times of fasting, illness, stress, or dehydration.

Gilbert's disease is typically an incidental finding, as it usually does not cause any significant symptoms or complications. It is often discovered during routine blood tests when bilirubin levels are found to be slightly elevated. The condition is usually harmless and does not require specific treatment, but avoiding triggers like fasting or dehydration may help minimize the occurrence of jaundice.

Aryl hydrocarbon hydroxylases (AHH) are a group of enzymes that play a crucial role in the metabolism of various aromatic and heterocyclic compounds, including potentially harmful substances such as polycyclic aromatic hydrocarbons (PAHs) and dioxins. These enzymes are primarily located in the endoplasmic reticulum of cells, particularly in the liver, but can also be found in other tissues.

The AHH enzymes catalyze the addition of a hydroxyl group (-OH) to the aromatic ring structure of these compounds, which is the first step in their biotransformation and eventual elimination from the body. This process can sometimes lead to the formation of metabolites that are more reactive and potentially toxic than the original compound. Therefore, the overall impact of AHH enzymes on human health is complex and depends on various factors, including the specific compounds being metabolized and individual genetic differences in enzyme activity.

Genotyping techniques are a group of laboratory methods used to identify and detect specific variations or differences in the DNA sequence, known as genetic variants or polymorphisms, that make up an individual's genotype. These techniques can be applied to various fields, including medical diagnostics, forensic science, and genetic research.

There are several types of genotyping techniques, each with its advantages and limitations depending on the application. Some common methods include:

1. Polymerase Chain Reaction (PCR)-based methods: These involve amplifying specific DNA sequences using PCR and then analyzing them for genetic variations. Examples include Restriction Fragment Length Polymorphism (RFLP), Amplification Refractory Mutation System (ARMS), and Allele-Specific PCR (AS-PCR).
2. Microarray-based methods: These involve hybridizing DNA samples to arrays containing thousands of known genetic markers or probes, allowing for simultaneous detection of multiple genetic variants. Examples include Single Nucleotide Polymorphism (SNP) arrays and Comparative Genomic Hybridization (CGH) arrays.
3. Sequencing-based methods: These involve determining the precise order of nucleotides in a DNA sequence to identify genetic variations. Examples include Sanger sequencing, Next-Generation Sequencing (NGS), and Whole Genome Sequencing (WGS).
4. Mass spectrometry-based methods: These involve measuring the mass-to-charge ratio of DNA fragments or oligonucleotides to identify genetic variants. Examples include Matrix-Assisted Laser Desorption/Ionization Time-of-Flight (MALDI-TOF) mass spectrometry and Pyrosequencing.

Genotyping techniques have numerous applications in medicine, such as identifying genetic susceptibility to diseases, predicting drug response, and diagnosing genetic disorders. They also play a crucial role in forensic science for identifying individuals and solving crimes.

Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which regulates the movement of salt and water in and out of cells. When this gene is not functioning properly, thick, sticky mucus builds up in various organs, leading to a range of symptoms.

In the lungs, this mucus can clog the airways, making it difficult to breathe and increasing the risk of lung infections. Over time, lung damage can occur, which may lead to respiratory failure. In the digestive system, the thick mucus can prevent the release of digestive enzymes from the pancreas, impairing nutrient absorption and leading to malnutrition. CF can also affect the reproductive system, liver, and other organs.

Symptoms of cystic fibrosis may include persistent coughing, wheezing, lung infections, difficulty gaining weight, greasy stools, and frequent greasy diarrhea. The severity of the disease can vary significantly among individuals, depending on the specific genetic mutations they have inherited.

Currently, there is no cure for cystic fibrosis, but treatments are available to help manage symptoms and slow the progression of the disease. These may include airway clearance techniques, medications to thin mucus, antibiotics to treat infections, enzyme replacement therapy, and a high-calorie, high-fat diet. Lung transplantation is an option for some individuals with advanced lung disease.

Apolipoprotein B (ApoB) is a type of protein that plays a crucial role in the metabolism of lipids, particularly low-density lipoprotein (LDL) or "bad" cholesterol. ApoB is a component of LDL particles and serves as a ligand for the LDL receptor, which is responsible for the clearance of LDL from the bloodstream.

There are two main forms of ApoB: ApoB-100 and ApoB-48. ApoB-100 is found in LDL particles, very low-density lipoprotein (VLDL) particles, and chylomicrons, while ApoB-48 is only found in chylomicrons, which are produced in the intestines and responsible for transporting dietary lipids.

Elevated levels of ApoB are associated with an increased risk of cardiovascular disease (CVD), as they indicate a higher concentration of LDL particles in the bloodstream. Therefore, measuring ApoB levels can provide additional information about CVD risk beyond traditional lipid profile tests that only measure total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.

Homocysteine is an amino acid that is formed in the body during the metabolism of another amino acid called methionine. It's an important intermediate in various biochemical reactions, including the synthesis of proteins, neurotransmitters, and other molecules. However, elevated levels of homocysteine in the blood (a condition known as hyperhomocysteinemia) have been linked to several health issues, such as cardiovascular disease, stroke, and cognitive decline.

Homocysteine can be converted back to methionine with the help of vitamin B12 and a cofactor called betaine, or it can be converted to another amino acid called cystathionine with the help of vitamin B6 and folate (vitamin B9). Imbalances in these vitamins and other factors can lead to an increase in homocysteine levels.

It is crucial to maintain normal homocysteine levels for overall health, as high levels may contribute to the development of various diseases. Regular monitoring and maintaining a balanced diet rich in folate, vitamin B6, and vitamin B12 can help regulate homocysteine levels and reduce the risk of related health issues.

Inbreeding, in a medical context, refers to the practice of mating closely related individuals within a given family or breeding population. This leads to an increased proportion of homozygous genes, meaning that the same alleles (versions of a gene) are inherited from both parents. As a result, recessive traits and disorders become more likely to be expressed because the necessary dominant allele may be absent.

In human medicine, consanguinity is the term often used instead of inbreeding, and it refers to relationships between individuals who share a common ancestor. Consanguinity increases the risk of certain genetic disorders due to the increased likelihood of sharing harmful recessive genes. The closer the relationship, the higher the risk.

In animal breeding, inbreeding can lead to reduced fertility, lower birth weights, higher infant mortality, and a decreased lifespan. It is crucial to maintain genetic diversity within populations to ensure their overall health and vigor.

I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:

1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.

If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

Apolipoprotein A-I (ApoA-I) is a major protein component of high-density lipoproteins (HDL) in human plasma. It plays a crucial role in the metabolism and transport of lipids, particularly cholesterol, within the body. ApoA-I facilitates the formation of HDL particles, which are involved in the reverse transport of cholesterol from peripheral tissues to the liver for excretion. This process is known as reverse cholesterol transport and helps maintain appropriate cholesterol levels in the body. Low levels of ApoA-I or dysfunctional ApoA-I have been associated with an increased risk of developing cardiovascular diseases.

Electrophoresis, starch gel is a type of electrophoretic technique used in laboratory settings for the separation and analysis of large biomolecules such as DNA, RNA, and proteins. In this method, a gel made from cooked starch is used as the supporting matrix for the molecules being separated.

The sample containing the mixture of biomolecules is loaded onto the gel and an electric field is applied, causing the negatively charged molecules to migrate towards the positive electrode. The starch gel acts as a molecular sieve, with smaller molecules moving more quickly through the gel than larger ones. This results in the separation of the mixture into individual components based on their size and charge.

Once the separation is complete, the gel can be stained to visualize the separated bands. Different staining techniques are used depending on the type of biomolecule being analyzed. For example, proteins can be stained with dyes such as Coomassie Brilliant Blue or silver nitrate, while nucleic acids can be stained with dyes such as ethidium bromide.

Starch gel electrophoresis is a relatively simple and inexpensive technique that has been widely used in molecular biology research and diagnostic applications. However, it has largely been replaced by other electrophoretic techniques, such as polyacrylamide gel electrophoresis (PAGE), which offer higher resolution and can be automated for high-throughput analysis.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

An ethnic group is a category of people who identify with each other based on shared ancestry, language, culture, history, and/or physical characteristics. The concept of an ethnic group is often used in the social sciences to describe a population that shares a common identity and a sense of belonging to a larger community.

Ethnic groups can be distinguished from racial groups, which are categories of people who are defined by their physical characteristics, such as skin color, hair texture, and facial features. While race is a social construct based on physical differences, ethnicity is a cultural construct based on shared traditions, beliefs, and practices.

It's important to note that the concept of ethnic groups can be complex and fluid, as individuals may identify with multiple ethnic groups or switch their identification over time. Additionally, the boundaries between different ethnic groups can be blurred and contested, and the ways in which people define and categorize themselves and others can vary across cultures and historical periods.

Lipids are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. They include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids. Lipids serve many important functions in the body, including energy storage, acting as structural components of cell membranes, and serving as signaling molecules. High levels of certain lipids, particularly cholesterol and triglycerides, in the blood are associated with an increased risk of cardiovascular disease.

Proline is an organic compound that is classified as a non-essential amino acid, meaning it can be produced by the human body and does not need to be obtained through the diet. It is encoded in the genetic code as the codon CCU, CCC, CCA, or CCG. Proline is a cyclic amino acid, containing an unusual secondary amine group, which forms a ring structure with its carboxyl group.

In proteins, proline acts as a structural helix breaker, disrupting the alpha-helix structure and leading to the formation of turns and bends in the protein chain. This property is important for the proper folding and function of many proteins. Proline also plays a role in the stability of collagen, a major structural protein found in connective tissues such as tendons, ligaments, and skin.

In addition to its role in protein structure, proline has been implicated in various cellular processes, including signal transduction, apoptosis, and oxidative stress response. It is also a precursor for the synthesis of other biologically important compounds such as hydroxyproline, which is found in collagen and elastin, and glutamate, an excitatory neurotransmitter in the brain.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Lipoproteins are complex particles composed of multiple proteins and lipids (fats) that play a crucial role in the transport and metabolism of fat molecules in the body. They consist of an outer shell of phospholipids, free cholesterols, and apolipoproteins, enclosing a core of triglycerides and cholesteryl esters.

There are several types of lipoproteins, including:

1. Chylomicrons: These are the largest lipoproteins and are responsible for transporting dietary lipids from the intestines to other parts of the body.
2. Very-low-density lipoproteins (VLDL): Produced by the liver, VLDL particles carry triglycerides to peripheral tissues for energy storage or use.
3. Low-density lipoproteins (LDL): Often referred to as "bad cholesterol," LDL particles transport cholesterol from the liver to cells throughout the body. High levels of LDL in the blood can lead to plaque buildup in artery walls and increase the risk of heart disease.
4. High-density lipoproteins (HDL): Known as "good cholesterol," HDL particles help remove excess cholesterol from cells and transport it back to the liver for excretion or recycling. Higher levels of HDL are associated with a lower risk of heart disease.

Understanding lipoproteins and their roles in the body is essential for assessing cardiovascular health and managing risks related to heart disease and stroke.

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Polydactyly is a genetic condition where an individual is born with more than the usual number of fingers or toes, often caused by mutations in specific genes. It can occur as an isolated trait or as part of a genetic syndrome. The additional digit(s) may be fully formed and functional, underdeveloped, or just a small bump. Polydactyly is one of the most common congenital limb abnormalities.

Sitosterols are a type of plant sterol or phytosterol that are structurally similar to cholesterol, a steroid lipid found in animals. They are found in small amounts in human diets, primarily in vegetable oils, nuts, seeds, and avocados. Sitosterols are not synthesized by the human body but can be absorbed from the diet and have been shown to lower cholesterol levels in the blood when consumed in sufficient quantities. This is because sitosterols compete with cholesterol for absorption in the digestive tract, reducing the amount of cholesterol that enters the bloodstream. Some margarines and other foods are fortified with sitosterols or other phytosterols to help reduce cholesterol levels in people with high cholesterol.

Apolipoprotein C (apoC) is a group of proteins that are associated with lipoproteins, which are complex particles composed of lipids and proteins that play a crucial role in the transport and metabolism of lipids in the body. There are three main types of apoC proteins: apoC-I, apoC-II, and apoC-III.

ApoC-I is involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of cholesteryl ester transfer protein (CETP), which is an enzyme that facilitates the transfer of cholesteryl esters from high-density lipoproteins (HDL) to low-density lipoproteins (LDL) and very low-density lipoproteins (VLDL).

ApoC-II is a cofactor for lipoprotein lipase, an enzyme that hydrolyzes triglycerides in chylomicrons and VLDL, leading to the formation of smaller, denser lipoproteins. A deficiency in apoC-II can lead to hypertriglyceridemia, a condition characterized by elevated levels of triglycerides in the blood.

ApoC-III is also involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of lipoprotein lipase and CETP. Elevated levels of apoC-III have been associated with an increased risk of cardiovascular disease, possibly due to its effects on lipoprotein metabolism.

In summary, apolipoprotein C is a group of proteins that are involved in the regulation of lipoprotein metabolism and have important roles in the transport and metabolism of lipids in the body.

Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder that primarily affects people of Mediterranean ancestry, including populations from Turkey, Armenia, Arab countries, and Jewish communities from the Middle East. It is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin or marenostrin.

The main features of FMF include recurrent episodes of fever, serositis (inflammation of the membranes lining the abdominal cavity, chest cavity, or heart), and polyserositis (inflammation affecting multiple serous membranes simultaneously). The attacks usually last between 12 and 72 hours and can be associated with severe abdominal pain, joint pain, and skin rashes.

The diagnosis of FMF is based on clinical criteria, family history, and genetic testing. Treatment typically involves the use of colchicine, an anti-inflammatory medication that helps prevent attacks and reduces the risk of long-term complications such as amyloidosis, a condition characterized by the buildup of abnormal protein deposits in various organs.

Early diagnosis and treatment of FMF are essential to prevent complications and improve quality of life for affected individuals.

Triglycerides are the most common type of fat in the body, and they're found in the food we eat. They're carried in the bloodstream to provide energy to the cells in our body. High levels of triglycerides in the blood can increase the risk of heart disease, especially in combination with other risk factors such as high LDL (bad) cholesterol, low HDL (good) cholesterol, and high blood pressure.

It's important to note that while triglycerides are a type of fat, they should not be confused with cholesterol, which is a waxy substance found in the cells of our body. Both triglycerides and cholesterol are important for maintaining good health, but high levels of either can increase the risk of heart disease.

Triglyceride levels are measured through a blood test called a lipid panel or lipid profile. A normal triglyceride level is less than 150 mg/dL. Borderline-high levels range from 150 to 199 mg/dL, high levels range from 200 to 499 mg/dL, and very high levels are 500 mg/dL or higher.

Elevated triglycerides can be caused by various factors such as obesity, physical inactivity, excessive alcohol consumption, smoking, and certain medical conditions like diabetes, hypothyroidism, and kidney disease. Medications such as beta-blockers, steroids, and diuretics can also raise triglyceride levels.

Lifestyle changes such as losing weight, exercising regularly, eating a healthy diet low in saturated and trans fats, avoiding excessive alcohol consumption, and quitting smoking can help lower triglyceride levels. In some cases, medication may be necessary to reduce triglycerides to recommended levels.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

Genetic selection, also known as natural selection, is a fundamental mechanism of evolution. It refers to the process by which certain heritable traits become more or less common in a population over successive generations due to differential reproduction of organisms with those traits.

In genetic selection, traits that increase an individual's fitness (its ability to survive and reproduce) are more likely to be passed on to the next generation, while traits that decrease fitness are less likely to be passed on. This results in a gradual change in the distribution of traits within a population over time, leading to adaptation to the environment and potentially speciation.

Genetic selection can occur through various mechanisms, including viability selection (differential survival), fecundity selection (differences in reproductive success), and sexual selection (choices made by individuals during mating). The process of genetic selection is driven by environmental pressures, such as predation, competition for resources, and changes in the availability of food or habitat.

HDL (High-Density Lipoprotein) cholesterol is often referred to as "good" cholesterol. It is a type of lipoprotein that helps remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. High levels of HDL cholesterol have been associated with a lower risk of heart disease and stroke.

Gene targeting is a research technique in molecular biology used to precisely modify specific genes within the genome of an organism. This technique allows scientists to study gene function by creating targeted genetic changes, such as insertions, deletions, or mutations, in a specific gene of interest. The process typically involves the use of engineered nucleases, such as CRISPR-Cas9 or TALENs, to introduce double-stranded breaks at desired locations within the genome. These breaks are then repaired by the cell's own DNA repair machinery, often leading to the incorporation of designed changes in the targeted gene. Gene targeting is a powerful tool for understanding gene function and has wide-ranging applications in basic research, agriculture, and therapeutic development.

Publication bias refers to the tendency of researchers, editors, and pharmaceutical companies to handle and publish research results in a way that depends on the nature and direction of the study findings. This type of bias is particularly common in clinical trials related to medical interventions or treatments.

In publication bias, studies with positive or "statistically significant" results are more likely to be published and disseminated than those with negative or null results. This can occur for various reasons, such as the reluctance of researchers and sponsors to report negative findings, or the preference of journal editors to publish positive and novel results that are more likely to attract readers and citations.

Publication bias can lead to a distorted view of the scientific evidence, as it may overemphasize the benefits and underestimate the risks or limitations of medical interventions. This can have serious consequences for clinical decision-making, patient care, and public health policies. Therefore, it is essential to minimize publication bias by encouraging and facilitating the registration, reporting, and dissemination of all research results, regardless of their outcome.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

Cholesteryl ester transfer proteins (CETP) are a group of plasma proteins that play a role in the transport and metabolism of lipids, particularly cholesteryl esters and triglycerides, between different lipoprotein particles in the bloodstream. These proteins facilitate the transfer of cholesteryl esters from high-density lipoproteins (HDL) to low-density lipoproteins (LDL) and very low-density lipoproteins (VLDL), while simultaneously promoting the transfer of triglycerides in the opposite direction, from VLDL and LDL to HDL.

The net effect of CETP activity is a decrease in HDL cholesterol levels and an increase in LDL and VLDL cholesterol levels. This shift in lipoprotein composition can contribute to the development of atherosclerosis and cardiovascular disease, as lower HDL cholesterol levels and higher LDL cholesterol levels are associated with increased risk for these conditions.

Inhibition of CETP has been investigated as a potential strategy for increasing HDL cholesterol levels and reducing the risk of cardiovascular disease. However, clinical trials with CETP inhibitors have shown mixed results, and further research is needed to determine their safety and efficacy in preventing cardiovascular events.

Neural Tube Defects (NTDs) are a group of birth defects that affect the brain, spine, or spinal cord. They occur when the neural tube, which forms the early brain and spinal cord of the embryo, does not close properly during fetal development. This can result in various conditions such as:

1. Anencephaly: a severe defect where most of the brain and skull are missing. Infants with anencephaly are usually stillborn or die shortly after birth.
2. Spina bifida: a condition where the spine does not close properly, leaving a portion of the spinal cord and nerves exposed. This can result in various neurological problems, including paralysis, bladder and bowel dysfunction, and hydrocephalus (fluid buildup in the brain).
3. Encephalocele: a condition where the skull does not close properly, allowing the brain to protrude through an opening in the skull. This can result in various neurological problems, including developmental delays, vision and hearing impairments, and seizures.

NTDs are thought to be caused by a combination of genetic and environmental factors, such as folic acid deficiency, obesity, diabetes, and exposure to certain medications during pregnancy. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of NTDs.

Inborn errors of lipid metabolism refer to genetic disorders that affect the body's ability to break down and process lipids (fats) properly. These disorders are caused by defects in genes that code for enzymes or proteins involved in lipid metabolism. As a result, toxic levels of lipids or their intermediates may accumulate in the body, leading to various health issues, which can include neurological problems, liver dysfunction, muscle weakness, and cardiovascular disease.

There are several types of inborn errors of lipid metabolism, including:

1. Disorders of fatty acid oxidation: These disorders affect the body's ability to convert long-chain fatty acids into energy, leading to muscle weakness, hypoglycemia, and cardiomyopathy. Examples include medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
2. Disorders of cholesterol metabolism: These disorders affect the body's ability to process cholesterol, leading to an accumulation of cholesterol or its intermediates in various tissues. Examples include Smith-Lemli-Opitz syndrome and lathosterolosis.
3. Disorders of sphingolipid metabolism: These disorders affect the body's ability to break down sphingolipids, leading to an accumulation of these lipids in various tissues. Examples include Gaucher disease, Niemann-Pick disease, and Fabry disease.
4. Disorders of glycerophospholipid metabolism: These disorders affect the body's ability to break down glycerophospholipids, leading to an accumulation of these lipids in various tissues. Examples include rhizomelic chondrodysplasia punctata and abetalipoproteinemia.

Inborn errors of lipid metabolism are typically diagnosed through genetic testing and biochemical tests that measure the activity of specific enzymes or the levels of specific lipids in the body. Treatment may include dietary modifications, supplements, enzyme replacement therapy, or gene therapy, depending on the specific disorder and its severity.

Deoxyribonucleases, Type II Site-Specific are a type of enzymes that cleave phosphodiester bonds in DNA molecules at specific recognition sites. They are called "site-specific" because they cut DNA at particular sequences, rather than at random or nonspecific locations. These enzymes belong to the class of endonucleases and play crucial roles in various biological processes such as DNA recombination, repair, and restriction.

Type II deoxyribonucleases are further classified into several subtypes based on their cofactor requirements, recognition site sequences, and cleavage patterns. The most well-known examples of Type II deoxyribonucleases are the restriction endonucleases, which recognize specific DNA motifs in double-stranded DNA and cleave them, generating sticky ends or blunt ends. These enzymes are widely used in molecular biology research for various applications such as genetic engineering, cloning, and genome analysis.

It is important to note that the term "Deoxyribonucleases, Type II Site-Specific" refers to a broad category of enzymes with similar properties and functions, rather than a specific enzyme or family of enzymes. Therefore, providing a concise medical definition for this term can be challenging, as it covers a wide range of enzymes with distinct characteristics and applications.

Apolipoprotein E3 (ApoE3) is one of the three major isoforms of apolipoprotein E (ApoE), a protein involved in the metabolism of lipids, particularly cholesterol. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4. These alleles result in three main isoforms of the protein: ApoE2, ApoE3, and ApoE4.

ApoE3 is the most common isoform, found in approximately 77-78% of the population. It has a slightly different amino acid sequence compared to ApoE2 and ApoE4, which can affect its function. ApoE3 is thought to play a neutral or protective role in the risk of developing Alzheimer's disease and cardiovascular diseases, although some studies suggest that it may have a mildly favorable effect on lipid metabolism compared to ApoE4.

Wolman disease is a rare inherited disorder of lipid metabolism, specifically affecting the enzyme acid lipase that is responsible for breaking down cholesteryl esters and triglycerides in lysosomes. This autosomal recessive condition leads to an accumulation of these fatty substances in various tissues and organs, including the liver, spleen, intestines, adrenal glands, and lymph nodes.

The symptoms of Wolman disease typically appear within the first few months of life and can include vomiting, diarrhea, failure to thrive, abdominal distention, and severe malnutrition. Other features may consist of hepatosplenomegaly (enlarged liver and spleen), calcification of adrenal glands, and progressive deterioration of the nervous system. The disease often results in death within the first two years of life if left untreated.

A related condition called acid lipase deficiency or Cholesteryl Ester Storage Disease (CESD) has a later onset and milder symptoms compared to Wolman disease, as it affects only one form of acid lipase enzyme.

Folic acid is the synthetic form of folate, a type of B vitamin (B9). It is widely used in dietary supplements and fortified foods because it is more stable and has a longer shelf life than folate. Folate is essential for normal cell growth and metabolism, and it plays a critical role in the formation of DNA and RNA, the body's genetic material. Folic acid is also crucial during early pregnancy to prevent birth defects of the brain and spine called neural tube defects.

Medical Definition: "Folic acid is the synthetic form of folate (vitamin B9), a water-soluble vitamin involved in DNA synthesis, repair, and methylation. It is used in dietary supplementation and food fortification due to its stability and longer shelf life compared to folate. Folic acid is critical for normal cell growth, development, and red blood cell production."

Siderosis is a medical condition characterized by the abnormal accumulation of iron in various tissues and organs, most commonly in the lungs. This occurs due to the repeated inhalation of iron-containing dusts or fumes, which can result from certain industrial processes such as welding, mining, or smelting.

In the lungs, this iron deposit can lead to inflammation and fibrosis, potentially causing symptoms like coughing, shortness of breath, and decreased lung function. It is important to note that siderosis itself is not contagious or cancerous, but there may be an increased risk for lung cancer in individuals with severe and prolonged exposure to iron-containing particles.

While siderosis is generally non-reversible, the progression of symptoms can often be managed through medical interventions and environmental modifications to reduce further exposure to iron-containing dusts or fumes.

I'm sorry for any confusion, but the term "shrews" is not a medical term. It is a common name used in zoology to refer to small mammals that are part of the family Soricidae and the suborder Soricomorpha. Shrews are insectivores, distantly related to moles and hedgehogs. If you have any questions about medical terminology or concepts, I would be happy to help!

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Lecithin:cholesterol acyltransferase (LCAT) deficiency is a genetic disorder that affects the metabolism of cholesterol in the body. LCAT is an enzyme that helps to convert cholesterol into a form that can be easily transported in the bloodstream.

In LCAT deficiency, the activity of this enzyme is reduced or absent, leading to an accumulation of cholesterol in various tissues and organs of the body. This can result in a range of symptoms, including corneal opacities (clouding of the clear outer layer of the eye), hemolytic anemia (destruction of red blood cells), proteinuria (excess protein in the urine), and kidney failure.

There are two main types of LCAT deficiency: a complete form, known as fish-eye disease, which is characterized by corneal opacities but few other symptoms; and an incomplete form, known as LCAT deficiency with systemic involvement, which can affect multiple organs and systems of the body.

LCAT deficiency is caused by mutations in the LCAT gene, which provides instructions for making the LCAT enzyme. Inheritance is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that functions as a chloride channel in the membranes of various cells, including those in the lungs and pancreas. Mutations in the gene encoding CFTR can lead to Cystic Fibrosis, a genetic disorder characterized by thick, sticky mucus in the lungs and other organs, leading to severe respiratory and digestive problems.

CFTR is normally activated by cyclic AMP-dependent protein kinase (PKA) and regulates the movement of chloride ions across cell membranes. In Cystic Fibrosis, mutations in CFTR can result in impaired channel function or reduced amounts of functional CFTR at the cell surface, leading to an imbalance in ion transport and fluid homeostasis. This can cause the production of thick, sticky mucus that clogs the airways and leads to chronic lung infections, as well as other symptoms associated with Cystic Fibrosis.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Analysis of Variance (ANOVA) is a statistical technique used to compare the means of two or more groups and determine whether there are any significant differences between them. It is a way to analyze the variance in a dataset to determine whether the variability between groups is greater than the variability within groups, which can indicate that the groups are significantly different from one another.

ANOVA is based on the concept of partitioning the total variance in a dataset into two components: variance due to differences between group means (also known as "between-group variance") and variance due to differences within each group (also known as "within-group variance"). By comparing these two sources of variance, ANOVA can help researchers determine whether any observed differences between groups are statistically significant, or whether they could have occurred by chance.

ANOVA is a widely used technique in many areas of research, including biology, psychology, engineering, and business. It is often used to compare the means of two or more experimental groups, such as a treatment group and a control group, to determine whether the treatment had a significant effect. ANOVA can also be used to compare the means of different populations or subgroups within a population, to identify any differences that may exist between them.

The MNSs blood group system is one of the human blood group systems, which is a classification of blood types based on the presence or absence of specific antigens on the surface of red blood cells (RBCs). This system is named after the first two letters of the surnames of the discoverers, Landsteiner and Levine, and the "s" stands for "slight."

The MNSs system includes three main antigens: M, N, and S. The M and N antigens are found on nearly all individuals, except for those who are genetically predisposed to lack both M and N antigens (M+N- or M-N-). These individuals have the "null" phenotype, also known as the "Ms" phenotype.

The S antigen is present in about 80% of people, while the s antigen is found in approximately 20% of people. The presence or absence of these antigens determines an individual's MNSs blood type. There are eight main MNSs blood types: M, N, MN, MS, NS, M+m, N+s, and M+N+S+s+.

The clinical significance of the MNSs system is relatively low compared to other blood group systems like ABO and Rh. However, it can still play a role in transfusion medicine, as antibodies against MNSs antigens may cause hemolytic transfusion reactions or hemolytic disease of the newborn (HDN) in rare cases. Therefore, it is essential to consider the MNSs blood group when performing pretransfusion testing and during pregnancy to ensure compatible blood products and prevent complications.

Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.

After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.

In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.

A mammalian embryo is the developing offspring of a mammal, from the time of implantation of the fertilized egg (blastocyst) in the uterus until the end of the eighth week of gestation. During this period, the embryo undergoes rapid cell division and organ differentiation to form a complex structure with all the major organs and systems in place. This stage is followed by fetal development, which continues until birth. The study of mammalian embryos is important for understanding human development, evolution, and reproductive biology.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Factor V, also known as proaccelerin or labile factor, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor V acts as a cofactor for the activation of Factor X to Factor Xa, which is a critical step in the coagulation cascade.

When blood vessels are damaged, the coagulation cascade is initiated to prevent excessive bleeding. During this process, Factor V is activated by thrombin, another protein involved in coagulation, and then forms a complex with activated Factor X and calcium ions on the surface of platelets or other cells. This complex converts prothrombin to thrombin, which then converts fibrinogen to fibrin to form a stable clot.

Deficiency or dysfunction of Factor V can lead to bleeding disorders such as hemophilia B or factor V deficiency, while mutations in the gene encoding Factor V can increase the risk of thrombosis, as seen in the Factor V Leiden mutation.

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

Low-density lipoproteins (LDL), also known as "bad cholesterol," are a type of lipoprotein that carry cholesterol and other fats from the liver to cells throughout the body. High levels of LDL in the blood can lead to the buildup of cholesterol in the walls of the arteries, which can increase the risk of heart disease and stroke.

Lipoproteins are complex particles composed of proteins (apolipoproteins) and lipids (cholesterol, triglycerides, and phospholipids) that are responsible for transporting fat molecules around the body in the bloodstream. LDL is one type of lipoprotein, along with high-density lipoproteins (HDL), very low-density lipoproteins (VLDL), and chylomicrons.

LDL particles are smaller than HDL particles and can easily penetrate the artery walls, leading to the formation of plaques that can narrow or block the arteries. Therefore, maintaining healthy levels of LDL in the blood is essential for preventing cardiovascular disease.

Epistasis is a phenomenon in genetics where the effect of one gene (the "epistatic" gene) is modified by one or more other genes (the "modifier" genes). This interaction can result in different phenotypic expressions than what would be expected based on the individual effects of each gene.

In other words, epistasis occurs when the expression of one gene is influenced by the presence or absence of another gene. The gene that is being masked or modified is referred to as the hypostatic gene, while the gene doing the masking or modifying is called the epistatic gene.

Epistasis can take many forms and can be involved in complex genetic traits and diseases. It can also make it more difficult to map genes associated with certain traits or conditions because the phenotypic expression may not follow simple Mendelian inheritance patterns.

There are several types of epistasis, including recessive-recessive, dominant-recessive, and dominant-dominant epistasis. In recessive-recessive epistasis, for example, the presence of two copies of the epistatic gene prevents the expression of the hypostatic gene, even if the individual has two copies of the hypostatic gene.

Understanding epistasis is important in genetics because it can help researchers better understand the genetic basis of complex traits and diseases, as well as improve breeding programs for plants and animals.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Fetal death, also known as stillbirth or intrauterine fetal demise, is defined as the death of a fetus at 20 weeks of gestation or later. The criteria for defining fetal death may vary slightly by country and jurisdiction, but in general, it refers to the loss of a pregnancy after the point at which the fetus is considered viable outside the womb.

Fetal death can occur for a variety of reasons, including chromosomal abnormalities, placental problems, maternal health conditions, infections, and umbilical cord accidents. In some cases, the cause of fetal death may remain unknown.

The diagnosis of fetal death is typically made through ultrasound or other imaging tests, which can confirm the absence of a heartbeat or movement in the fetus. Once fetal death has been diagnosed, medical professionals will work with the parents to determine the best course of action for managing the pregnancy and delivering the fetus. This may involve waiting for labor to begin naturally, inducing labor, or performing a cesarean delivery.

Experiencing a fetal death can be a very difficult and emotional experience for parents, and it is important for them to receive supportive care from their healthcare providers, family members, and friends. Grief counseling and support groups may also be helpful in coping with the loss.

HLA (Human Leukocyte Antigen) antigens are a group of proteins found on the surface of cells in our body. They play a crucial role in the immune system's ability to differentiate between "self" and "non-self." HLA antigens are encoded by a group of genes located on chromosome 6, known as the major histocompatibility complex (MHC).

There are three types of HLA antigens: HLA class I, HLA class II, and HLA class III. HLA class I antigens are found on the surface of almost all cells in the body and help the immune system recognize and destroy virus-infected or cancerous cells. They consist of three components: HLA-A, HLA-B, and HLA-C.

HLA class II antigens are primarily found on the surface of immune cells, such as macrophages, B cells, and dendritic cells. They assist in the presentation of foreign particles (like bacteria and viruses) to CD4+ T cells, which then activate other parts of the immune system. HLA class II antigens include HLA-DP, HLA-DQ, and HLA-DR.

HLA class III antigens consist of various molecules involved in immune responses, such as cytokines and complement components. They are not directly related to antigen presentation.

The genetic diversity of HLA antigens is extensive, with thousands of variations or alleles. This diversity allows for a better ability to recognize and respond to a wide range of pathogens. However, this variation can also lead to compatibility issues in organ transplantation, as the recipient's immune system may recognize the donor's HLA antigens as foreign and attack the transplanted organ.

Not all homozygote individuals are completely resistant. In natural population, CCR5Δ32 homozygotes are rarer than ... homozygotes) were about 20% more likely than the rest of the population to die before they were 76 years of age. The research ...
Homozygotes do not survive to birth. When a wild-type FLCN gene was added, the phenotype was rescued. Knockout mice have been ... Homozygotes die in utero. Citations Genetics Home Reference. Andrews 2011. Reese et al. 2009. Palmirotta et al. 2010. Toro 2008 ...
Female homozygote mutants had decreased circulating glucose levels. Male hemizygous mutants had an increased susceptibility to ...
... the typical homozygote; the rare homozygote (bimacula) and the heterozygote (medionigra). It was studied there by Ford and ... since neither homozygote can reach 100% of the population. For this reason, it is likely that the carbonaria allele was in the ... homozygote and also the heterozygote is normal (though heterozygote individuals will suffer periodic problems). The sickle-cell ... which survive better than either of the homozygotes. This affects the caterpillars as well as the moths, in spite of the ...
The allele effect is the average phenotypic deviation of the homozygote from the mid-point of the two contrasting homozygote ... They therefore produce f p 0 {\textstyle fp_{0}} "AA" homozygotes plus f q 0 {\textstyle fq_{0}} "aa" homozygotes. Adding these ... homozygote; ( q 0 2 + f p 0 q 0 ) {\textstyle \left(q_{0}^{2}+fp_{0}q_{0}\right)} for the "aa" homozygote; and 2 p 0 q 0 − f ( ... The central value he chose for the gene was the midpoint between the two opposing homozygotes at the one locus. The deviation ...
... the typical homozygote; the rare homozygote (bimacula) and the heterozygote (medionigra). It was studied there by E. B. Ford, ...
1987). "Homozygotes for Huntington's disease". Nature. 326 (6109): 194-197. Bibcode:1987Natur.326..194W. doi:10.1038/326194a0. ...
Koeslag JH, Schach SR (1985). "On the perpetuation of relic genes having an inviable homozygote". Annals of Human Genetics. 49 ...
Homozygotes Bl/Bl are white with a faint bluish gray tinge, and blue in feathers with the form of large irregular shaped blobs ... And homozygotes bl+/bl+ are solid black. The mating of "blue" cocks and hens" give an offspring of black, "blue" and whitish ... Homozygotes Ml/Ml are nearly all black especially in combination with some recessive alleles of the E allelic series such as eb ... Melanotic is considered incompletely dominant because heterozygotes are unlike either homozygote. Australorp Breda Castilian ...
Gaffney, P.J.; Lehmann, H. (1969). "Residual Enzyme Activity in the Serum of a Homozygote for the Silent Pseudocholinesterase ... Griffiths, P. D.; Davies, D.; Lehmann, H. (1966). "A second family demonstrating the homozygote for fluoride-resistant ...
Affected birds are heterozygous (Cp/+) for the gene; homozygotes (Cp/Cp) die at the embryo stage.: 2 The Cp trait is linked ...
Geriadur ar Vezekniezh, Rann 6, Homozygote - Lagophtalmie, Galleg-Saozneg-Brezhoneg, Preder, 2012. - pp. 801-960. Geriadur ar ...
Homozygote mutant males had a decreased body weight and abnormal tooth morphology; females had decreased forepaw grip strength ...
... a closed-tube method for differentiating homozygotes and heterozygotes". Clin. Chem. 49 (3): 396-406. doi:10.1373/49.3.396. ... ", "Heterozygote" or "Homozygote" respectively. Each gives a melt curve that is slightly different. With a high quality HRM ...
Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15-20. doi: ...
Although homozygotes I/I have always a solid white plumage color, heterozygous I/i+ chicks are generally black spotted, while ... Homozygotes for this plumage color mutant have white plumage, whereas heterozygotes for the gene show a diluted plumage color. ... Homozygotes die in an early phase of embryonic development. Kokemüller (1935) described a sex-linked albinism in the budgerigar ...
Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15-20. doi: ...
Heterozygotes (R/r) have wavy hair that is easily distinguishable from either homozygote. Wavy hair is considered desirable in ... H/h heterozygotes are harlequin and h/h homozygotes are non-harlequin. Breeding data suggests that homozygous H/H is embryonic ...
In the absence of the relaxant, the homozygote is at no known disadvantage. Finally, pseudocholinesterase metabolism of ...
During meiosis in a translocation homozygote, chromosomes segregate normally according to Mendelian principles. Even though the ...
The plasma LDL levels are inversely related to the activity of LDL receptor (LDLR). Homozygotes have LDLR activity of less than ... Having two abnormal copies (homozygote) causes accelerated atherosclerosis in childhood, including its complications. ... recessive hypercholesterolemia tend to have more severe disease than LDLR-heterozygotes but less severe than LDLR-homozygotes. ...
... either as homozygotes or heterozygotes. The hemoglobin molecules of HbS/HbS homozygotes undergo a change in shape that distorts ... If two alleles of a given gene are identical, the organism is called a homozygote and is said to be homozygous with respect to ... For a third allele C, a CC homozygote produces a very small amount of PAH enzyme, which results in a somewhat elevated level of ... Mendel reasoned that each parent in the first cross was a homozygote for different alleles (one parent AA and the other parent ...
Homozygotes for it won't have any white in their coat. wg=Birman white gloving allele, recessive allele. The colorpoint pattern ... does not initiate this shift in the pigmentation pathway and so homozygotes aa have pigment production throughout the entire ... but be nearly or completely nonexistent in homozygotes (TiATiA). The ticked tabby allele is epistatic to and therefore ...
MHC-heterozygous females had significantly reduced fitness compared to homozygotes. This finding has been replicated in another ... for the maintenance of a highly diverse set of MHC genes if MHC heterozygotes are more resistant to parasites than homozygotes- ...
Male homozygotes had decreased circulating cholesterol and LDL cholesterol levels. GRCh38: Ensembl release 89: ENSG00000113615 ...
X-linked dominant inheritance will show the same phenotype as a heterozygote and homozygote. Just like X-linked inheritance, ...
The heterozygote expressed none of the disadvantages of homozygotes, yet gained improved viability. The homozygote wild type ... Cases of both homozygote and heterozygote advantage have been demonstrated in several organisms, including humans. The first ... A common example is the case where the heterozygote conveys both advantages and disadvantages, while both homozygotes convey a ... Heterozygote disadvantage occurs when "a heterozygote has a lower overall fitness than either homozygote." Heterozygote ...
The homozygote individuals had cystathionine levels greater than 0.5 moles per milligram of creatinine. Each of the homozygote ... In contrast, the heterozygote individuals excreted approximately one tenth the amount of cystathionine as the homozygote ... homozygotes and heterozygotes were able to be distinguished in one study through both plasma and urinary levels of ...
Of the DQ2 homozygotes who eat wheat, lifelong risk is between 20 and 40% for coeliac disease. The relationship of DQ2 and ... Double homozygotes (of DQA1 and DQB1) can only form DQ2.5cis. This occurs when a person inherits a DQ2.5cis bearing chromosome ... DQ2.2/DQ2.2 DQ2.2 homozygotes represent about 1.1% of the celiac population, this is not high relative to controls, but it is ... These partial homozygotes in the Dutch CD population are approximately 20%, as compared to a randomly expected 3% indicating a ...
Heterozygotes often have an appearance somewhere in between those of homozygotes. For example, a cross between true-breeding ...
Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys and rodents. These mutations are unevenly distributed and can accumulate clonally in certain cells, causing a mosaic pattern of respiratory chain deficiency in tissues such …
The frequency genetically determined adult-type hypolactasia in cystic fi brosis patients homozygotes for p.Phe508del * М. Я. ...
... homozygotes have a sevenfold risk. Other less prevalent risk genes and familial tendencies have also been identified.4. ...
Not all homozygote individuals are completely resistant. In natural population, CCR5Δ32 homozygotes are rarer than ... homozygotes) were about 20% more likely than the rest of the population to die before they were 76 years of age. The research ...
La Drepanocytose homozygote a Dakar : influence du taux dhemoglobine F; des facteurs socio-culturels et economiques ... La Drepanocytose homozygote a Dakar : influence du taux dhemoglobine F; des facteurs soci ...
Homozygotes. Heterozygotes. Population. Healthy Caucasian, %†. 40. 10. 50. 50. European, with sporadic CJD, %. 67. 17. 84. 16. ...
Unlike type I and type II homozygotes, type III homozygotes show an increase in plasma cystine concentration after oral cystine ... Homozygotes excrete more than 400 mg/d (1.7 mmol/d), and cystine excretion in homozygous patients is usually 600-1400 mg/d (2.5 ... feature between type II and type III cystinuria is the lack of intestinal cystine absorption in type II homozygotes. In 2000, ...
Homozygotes for another targeted mutation had no abnormalities. Gene Ontology. (GO). Classifications ...
9] Homozygotes with proline (HPA-1b/HPA-1b, or PLA2/PLA2) are termed PLA1-negative. ... homozygotes are HPA-1a/HPA-1a. A small number of individuals, approximately 1-3% of random populations, have proline at ...
Exceptionally Low Likelihood of Alzheimers Dementia in APOE2 Homozygotes from a 5,000-Person Neuropathological Study. Nat. ...
ApoE ε4 homozygotes *Patients who are apolipoprotein E ε4 (ApoE ε4) homozygotes (~15%) treated with this class of medications, ... there is an increased risk in patients who are ApoE ε4 homozygotes, and that there is a test available to determine ApoE ε4 ... it cannot be determined if they carry ApoE ε4 homozygotes and are at higher risk for ARIA ...
People with a variant in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and ...
... of all homozygotes in Australia, compared with the detection of roughly 3% of homozygotes using current testing strategies. ... In particular, HH homozygotes are not underrepresented among the elderly, and hence they do not have a shorter life expectancy ... The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the ... Similarly, all-cause mortality is no higher for C282Y homozygotes, who on average have significantly reduced low-density ...
... fertility and other breeding statistics for heterozygous females and homozygotes are unverified, but presumably would be ...
Les chiens homozygotes normaux (N/N) ne font pas de DM, les sujets malades sont tous de génotype DM/DM mais inversement, tous ... éleveurs doivent faire tester leurs reproducteurs et sassurer quun des 2 parents au moins dune future portée est homozygote ... les homozygotes mutés (DM/DM) ne présentent pas pour autant des troubles.. ...
Les chiens homozygotes normaux (N/N) ne font pas de DM, les sujets malades sont tous de génotype DM/DM mais inversement, tous ... éleveurs doivent faire tester leurs reproducteurs et sassurer quun des 2 parents au moins dune future portée est homozygote ... les homozygotes mutés (DM/DM) ne présentent pas pour autant des troubles.. ...
Furthermore, whereas Val homozygotes show a constant level of intrinsic motivation to exercise, people with at least one Met ...
... of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. ...
A2 homozygotes). RESULTS: The prevalence of A1 genotype was 34.4 % in current waterpipe users, and was associated with the ...
APOE ε2 homozygotes, but not APOE ε2 heterozygotes, showed larger GM volumes in areas related to successful aging. Discussion: ... APOE ε2 homozygotes, but not APOE ε2 heterozygotes, showed larger GM volumes in areas related to successful aging. Discussion: ... Methods: Multicenter brain magnetic resonance images (MRIs) from cognitively unimpaired ε2 homozygotes were matched (1:1) ... Methods: Multicenter brain magnetic resonance images (MRIs) from cognitively unimpaired ε2 homozygotes were matched (1:1) ...
An exact binomial test was applied to test the number of observed homozygotes with the number of expected homozygotes. ... We observed a low number of homozygous carriers for LW17 (2 homozygotes) and LW18 (3 homozygotes), suggesting incomplete LD ... Haplotypes with a frequency , 0.5% were retained for identification of missing homozygotes. The expected number of homozygotes ... The genomic location and haplotype frequency is provided in columns 1-5. The "homozygotes" section shows expected and observed ...
In this case, only 47% of homozygote animals displayed a looped tail and 12% developed spina bifida, a milder NTD as compared ...
Previous research has indicated that while met-homozygotes typically outperform val-homozygotes on cognitive tasks in low- ... stress conditions, met-homozygotes indicate cognitive deficits in high-stress conditions [36-39].This difference is attributed ... This outcome is particularly the case for met-homozygotes under stress, who experience a further rush of dopamine on top of ... elevated basal dopamine levels relative to val-homozygotes. In the current study, we found that the stress mindset manipulation ...
Different colored bars represent different genotype classes with red and blue representing different homozygotes and purple ... Different colored bars represent different genotype classes with red and blue representing different homozygotes and purple ... Different colored bars represent different genotype classes with red and blue representing different homozygotes and purple ...
In approximately 5% of the samples, we had difficulty in discriminating between homozygotes and heterozygotes (i.e., apo E3/3 ...
homozygote 28 homozygous 28 hookchecks 28 hybridizer 28 hybridizes 28 jacksmiths 28 kymography 28 photolyzed 28 phyllotaxy 28 ... homozygotes 29 hybridizers 29 jacklighted 29 lyophilized 29 mythologize 29 prizefights 29 psychopathy 29 psychophily 29 ...
  • The 9p21.3 polymorphism had a significant influence on the composite primary endpoint (cardiovascular death, recurrent MI, or revascularization), with homozygotes experiencing worse outcomes than heterozygotes. (tctmd.com)
  • Among the individual endpoints, however, only the rate of revascularization was affected by presence of the polymorphism, accounting for a 19% increased relative risk in heterozygotes and 41% in homozygotes (table 1). (tctmd.com)
  • For this analysis, 9-9 homozygotes and 9-10 heterozygotes were grouped as SLC6A3∗9R carriers and contrasted with SLC6A3∗10R homozygotes. (snmjournals.org)
  • 19 ) studied 14 abstinent alcoholics and 11 control subjects and found that SLC6A3 9-10 heterozygotes had a mean 22% decrease in DAT binding in putamen, but not caudate, compared with SLC6A3∗10R homozygotes. (snmjournals.org)
  • Given the higher frequency of the variant, only compound heterozygotes were initially referred, allowing for optimization of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. (cdc.gov)
  • APOE ε2 homozygotes, but not APOE ε2 heterozygotes, showed larger GM volumes in areas related to successful aging. (lu.se)
  • Homozygotes for another targeted mutation had no abnormalities. (jax.org)
  • Approximately 80 - 85% of patients affected by hereditary hemochromatosis have two copies of this C282Y mutation (C282Y homozygotes). (genebase.com)
  • Individuals that carry two copies of the H63D mutation (H63D homozygotes) have a slightly increased risk of hemochromatosis but often other precipitating factors (e.g. hepatitis or alcohol abuse) are also required before iron overload occurs. (genebase.com)
  • Individuals that carry two copies of the S65C mutation (S65C homozygotes) do not appear to be at an increased risk of hemochromatosis. (genebase.com)
  • Iron overload is detected in 90% of male C282Y homozygotes but only in 50% of female C282Y homozygotes, and, overall, approximately 30% of C282Y homozygotes will not show any iron overload symptoms. (genebase.com)
  • Where the intervention of a DNA analyst is required, FaSTR™ DNA readily provides all details related to possible ambiguity of a peak (i.e. stutter type, stutter ratio, composite stutter, pull-up proportion, N/shoulder peak, peak morphology, low homozygote, heterozygote imbalance) and signals a requirement for the DNA analyst to make a decision. (labmanager.com)
  • The C282Y/H63D compound heterozygote occurs in 3-8% of patients with hemochromatosis but it is associated with a milder form of disease than C282Y homozygotes, and often other factors (e.g. hepatitis or alcohol abuse) are also required. (genebase.com)
  • Most hemochromatosis homozygotes display a common laboratory phenotype, namely an elevated transferrin saturation. (ashpublications.org)
  • Effects were recessive, with minor allele homozygotes gaining extreme amounts of weight during the 12-week trial. (sciencedaily.com)
  • The subgroup analysis showed an increased breast cancer risk in Asians based on homozygote comparison and the recessive model. (medscimonit.com)
  • Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
  • The lifetime incidence of severe liver disease alone appears to be approximately 9% (95% confidence interval: 2.6-15.3%) of male HFE C282Y homozygotes of European ancestry based on data from prospective cohort studies. (cdc.gov)
  • The SLC6A3∗9R carriers had significantly higher striatal DAT availability (V 3 ″) than did the SLC6A3∗10R homozygotes, controlling for age (F 1,93 = 6.25, P = 0.014, analysis of covariance). (snmjournals.org)
  • People with a variant in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. (medlineplus.gov)
  • The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the absence of presymptomatic detection is that widespread detection could avert considerable numbers of premature deaths in populations of predominantly European ancestry. (cdc.gov)
  • Disease manifests only in homozygotes. (msdmanuals.com)
  • Discussion: In addition to the known resistance against amyloid-β deposition, the larger GM volumes in key brain regions may confer APOE ε2 homozygotes additional protection against AD-related cognitive decline. (lu.se)
  • The ∗9R carriers ( n = 41, 49.8 ± 19.5 y) had a mean increase in striatal DAT availability of 8.9% relative to the ∗10R homozygotes ( n = 53, 49.9 ± 19.2 y). (snmjournals.org)
  • To seek evidence for this, we compared iron status and morbidity in unselected first degree relatives of two groups of index cases from South Wales, namely asymptomatic C282Y homozygotes identified by genetic screening of blood donors (n = 56) and C282Y homozygous haemochromatosis patients presenting clinically (n = 60). (bmj.com)
  • Morbidity and SF-36 scores did not differ significantly either between C282Y homozygotes and relatives lacking C282Y, or between C282Y homozygotes from the "screened" and "patient" groups. (bmj.com)
  • Lack of excess morbidity among C282Y homozygous relatives of index cases who presented clinically suggests that residual unknown genetic or environmental factors do not greatly influence clinical outcome among C282Y homozygotes. (bmj.com)
  • The lifetime incidence of severe liver disease alone appears to be approximately 9% (95% confidence interval: 2.6-15.3%) of male HFE C282Y homozygotes of European ancestry based on data from prospective cohort studies. (cdc.gov)
  • The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the absence of presymptomatic detection is that widespread detection could avert considerable numbers of premature deaths in populations of predominantly European ancestry. (cdc.gov)
  • Les chiens homozygotes normaux (N/N) ne font pas de DM, les sujets malades sont tous de génotype DM/DM mais inversement, tous les homozygotes mutés (DM/DM) ne présentent pas pour autant des troubles. (collie-online.com)
  • Homozygotes for the hereditary persistence of fetal hemoglobin: The ratio of G? (wikidata.org)
  • [ 18 ] The increase in life expectancy of homozygotes means that affected females are getting pregnant more often than in the past. (medscape.com)
  • The authors calculated that routine genetic screening of such males at age 30 and females at age 45 could identify 40% of all homozygotes in Australia, compared with the detection of roughly 3% of homozygotes using current testing strategies. (cdc.gov)
  • Individuals with the Val158 homozygote variant degrade dopamine four times faster than those homozygous for methionine at 158. (salimetrics.com)

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