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
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
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.
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.
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.
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
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.
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)

Mice homozygous for the jerker spontaneous mutation (|i|Espn|sup|je|/sup||/i|) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age.|br||br|Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth
In contrast, Dupuis and Van Eerdewegh HST method [3] conditions on parental genotypes. They argue that if a parent is homozygous at all risk SNPs in a linked region, then it should not matter which haplotype is transmitted to affected offspring because they confer the same disease susceptibility. Hence, there should be no excess IBD sharing by affected siblings inherited from parents who are homozygous at all risk variants. However, if a particular set of SNPs is in linkage equilibrium with the susceptibility SNPs, the sharing probabilities should not depend on the parental genotypes, and the probabilities of IBD sharing from homozygous and heterozygous parents should be the same. For the intermediate situation in which the tested SNPs are in LD with risk variants, some increased sharing may be observed from homozygous parents, and the degree of excess sharing will depend on the LD between the tested SNPs and the disease SNPs. Therefore, they propose to compare the observed IBD sharing from ...
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A,G and a homozygous g.23508437A,G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development ...
Alzheon publishes analyses showing clinical benefit of Tramiprosate in APOE4/4 Homozygous patients at the mild stage of Alzheimers disease in JPAD.
I would like to know about the level of gene expression in homozygote and heterozygote with respect to a transgenic loci and a wild type loci? I am under the impression that the level of gene expression in a homozygote and a heterozygote in the case of a dominant charcter is the same. Would somebody calrify me? Thanks, SATHYA ...
In this strain exon 2 of the |i|Mlh3|/i|, mutL homolog 3 (E coli), gene is disrupted. Homozygotes are infertile, exhibiting meiotic arrest during gametogenesis, and develop a higher frequency of gastrointestinal tumors when compared to controls. This mutant mouse strain may be useful in studies of microsatellite instability, DNA-damage response, and tumorigenesis.
Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general ...
Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general ...
Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general ...
Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, ...
Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, ...
2020 African Americans. rs3211938, previously shown to influence malaria susceptibility, is documented to result in CD36 deficiency in a homozygous subject. This SNP conferred protection against the Metabolic Syndrome (p=0.0012, OR= 0.61, 95%CI: 0.46-0.82), increased high-density lipoprotein cholesterol, HDL-C (p=0.00018), and decreased triglycerides (p=0.0059) ...
that synapses in these animals are severely depleted of synaptic We used PCR-based genotyping to verify that the deleted strains do vesicles. We conclude that LC-PUFAs are required for efficient not contain duplications of the intact fat-3 gene. Analyses were carried out in fat-3(lg8101) homozygous, in fat-3(lg8101)dpy-20(e1282)/unc-24(e138)fat-3(qa1811)dpy-20(e1282) heterozygous or in fat-3(wa22)homozygous animals. fat-3 mutants were outcrossed to wild-type animals at least six times before analysis. Total RNA for RT-PCR was extracted from mixed C. elegans populations (Chomczynski and Sacchi, 1987). 1 µg of total RNA was reverse transcribed and PCR amplified using Ready-to-go RT-PCR beads (Amersham Biosciences, Chalfont St. Giles, UK). RT-PCR for unc-22 mRNA was used as positive control (data not shown). Primers used (Fig. 2A): a, 5′-CTCGAATTTTAAACAACTTCGCCGC-3′; b,5′-GGCAGCTTTAGCTTGAATGTGCTC-3′; c, 5′-CAGAAGCTTC- Rescue experiments A region comprising 1 kb 5′ of the fat-3 start, ...
In general, gene expression (in terms of mRNA production) should be proportional to the number of copies of the gene present in the genome. If multiple alleles of a gene are present, the expression of each should be similar. So for a gene with 2 alleles (call them A and a), the level of expression in an animal homozygous for A would be 2(A) (since it has 2 copies of the allele, assuming it got one from the father and one from the mother). A heterozygote would show levels of expression of 1(A) + 1(a), and a homozygote for a would be 2(a). This should hold true for genes introduced by transgenic methods as well, assuming that your transgene is present in similar numbers as the complementary endogenous gene, and that it did not insert into a genomic location that somehow inhibits it from being expressed. Keep in mind that this is a rather idealized explanation and there are a number of things that are not taken into account. If, for example, the function of the product of gene A is to stimulate ...
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Kobozieff, N; Reynes, F; and Gemahling, E, Variation du degre dexpressivite chez les homozygotes hemimeliques en fonction du milieu genetique et du degre dexpressivite des geniteurs. (1968). Subject Strain Bibliography 1968. 1640 ...
In this way, the corresponding DNA was obtained from the tumours and the indicated cellular lines, in order to subsequently determine the frequency of homozygotic delections, loss of heterozygosity, instability of microsatellites, hypermethylation of the promoter and the level of genetic expression of the previously mentioned genes, all of these being mechanisms that can inactivate the tumour suppressor genes and, thus, favour the formation of the tumour. The techniques used in order to carry out this analysis were differential PCR, standard PCR, MSP and RT-PCR. The profile of gains and losses of genetic material at a global genome level was also studied by means of CGH ...
A copy of the APTOS Technology, Bestan, Inc., Letter of Compliance can be found at the following link (Bestan Letter of Compliance).. APTOS Technology is committed to meeting the requirements of these regulations as they are introduced.APTOS Technology has changed our part numbers to easily identify all RoHS compliant parts.. In some cases, traditional and older technology parts will no longer be available. APTOS Technology will make every effort to inform customers of discontinuing parts and will ensure that our website reflects this information.. For all RoHS part numbers: As a standard, APTOS Technology will add a -G at the end of all part numbers that are RoHS compliant. A V will also be inserted into the part number ahead of the plating code to ensure that all pin and plating materials meet the RoHS requirements. For High Temperature processing requirements, An F will be placed ahead of the G to signify a part that is capable of withstanding High Temp processing as set forth in the ...
rs8034191 increases susceptibility to Lung cancer 1.27 times for heterozygotes (CT) and 1.80 times for homozygotes (CC) [PMID 18385738] rs8034191 increases susceptibility to Lung cancer 1.28 times for heterozygotes (CT) and 1.81 times for homozygotes (CC) [PMID 18385676 ...
genetics) an organism having two identical alleles of a particular gene and so breeding true for the particular characteristic. ...
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Looking for online definition of homozygosis in the Medical Dictionary? homozygosis explanation free. What is homozygosis? Meaning of homozygosis medical term. What does homozygosis mean?
Clinical trial for Homozygous Familial Hypercholesterolemia , Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor indicated as adjunctive therapy for adults with homozygous familial hypercholesterolemia (HoFH). LOWER is a global observational registry to prospectively assess long-term, safety and effectiveness of lomitapide in clinical practice. Adult HoFH patients treated with lomitapide in clinical practice are eligible.. Results: As of March 1, 2016, 143 patients had been enrolled in the USA, Canada, EU and Taiwan (Table); 139 patients had lomitapide exposure data (median 17.7 months, range 0.3-35.9 months). Globally, median lomitapide dose was 10 mg QD (range 5 mg QOD-40 mg QD, 6-33 months). A ≥ 50% reduction in LDL-C at any time post-baseline was measured in 58% of patients; 62% of patients achieved LDL-C , 100 mg/dL and 37% achieved LDL-C , 70 mg/dL. AEs were experienced by 73% of patients; GI disorders were the most common (45%). Serious AEs occurred in 21 (15%) patients. Thirty-three (24%) patients discontinued ...
Homozygous Familial Hypercholesterolemia information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Global Homozygous Familial Hypercholesterolemia Treatment Market By Product Type (AEM-2802, AEM-2814) And By End-Users/Application (Clinic, Hospital) Global Market Share, Forecast Data, In-Depth Analysis, And Detailed Overview, and Forecast, 2013 - 2026
Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene. Neonatology. 2019 Jul 26;:1-5 Authors: Brix N, Jensen JM, Pedersen IS, Ernst A, Frost S, Bogaard P, Petersen MB, Bender L Abstract The cytochrome C oxidase assembly protein SCO1 gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of SC...
Purpose.: To provide an up to 14-year overview of the early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene. Methods.: Two brothers and their sister were followed-up clinically from ages 5 years, 4 years, and 2 months, respectively, including complete ophthalmological examinations. Goldmann visual fields, two-color-threshold (2CT) perimetry, color vision testing, optical coherence tomography (OCT), fundus autofluorescence (FAF), and Ganzfeld electroretinograms (ERGs) were performed according to age-related capabilities. Genetic analyses included whole genome linkage analysis, homozygosity mapping, and candidate gene sequencing. Results.: All three siblings were homozygous for the p.G461R mutation. At 5 months, the younger brother had no nystagmus and Teller-acuity of 3.2 cyc/deg. At older age, all three presented nystagmus, increased light sensitivity, reduced color discrimination, and relative central scotomas. Visual acuities ranged from 20/200 to 20/70. The ...
Analysis of the F2 population revealed regions of segregation distortion on chromosomes 1D, 3D, 4D, 5D, and 7D. Major regions of distortion on chromosomes 1D, 3D, 4D, and distorted region 1 of 5D were the result of excess TA1691 homozygotes and a deficiency of TA1704 homozygotes, while the number of heterozygotes was normal. Deviation of distorted region 2 of chromosome 5D was caused by excess heterozygotes and a lack of TA1704 homozygous genotypes, while there was no deviation in the number of TA1691 homozygotes. Distorted region 3 of 5D was caused by a lack of heterozygotes and excess TA1691 homozygotes, with the expected number of TA1704 homozygotes. Chromosome 7D was the only chromosome with distorted regions in which marker segregation ratios deviated because of excess TA1704 homozygotes and a deficiency of TA1691 homozygotes, while the frequency of heterozygotes was as expected.. A region of 56.2 cM consisting of eight markers on 1DL was skewed in favor of TA1691 homozygotes and had a ...
Looking for homozygote? Find out information about homozygote. : see genetics genetics, scientific study of the mechanism of heredity. While Gregor Mendel first presented his findings on the statistical laws governing... Explanation of homozygote
The available medications used to treat HoFH are targeted at reducing circulating levels of total and LDL-cholesterol. These measures can retard the progression of cardiovascular disease, however, they are unlikely to regress existing disease due to years of cholesterol accumulation in the vessel walls and therefore cannot adequately reduce the existing risk for an ischemic event. HDL has multiple actions that could lead to plaque stabilization and regression, such as rapid removal of large quantities of cholesterol from the vasculature, improvement in endothelial function, protection against oxidative damage and reduction in inflammation. This study will assess the effects of CER-001, a recombinant human Apo-A-1 based HDL mimetic, on indices of atherosclerotic plaque progression and regression as assessed by 3Tesla MRI measurements in patients with HoFH ...
The available medications used to treat HoFH are targeted at reducing circulating levels of total and LDL-cholesterol. These measures can retard the progression of cardiovascular disease, however, they are unlikely to regress existing disease due to years of cholesterol accumulation in the vessel walls and therefore cannot adequately reduce the existing risk for an ischemic event. HDL has multiple actions that could lead to plaque stabilization and regression, such as rapid removal of large quantities of cholesterol from the vasculature, improvement in endothelial function, protection against oxidative damage and reduction in inflammation. This study will assess the effects of CER-001, a recombinant human Apo-A-1 based HDL mimetic, on indices of atherosclerotic plaque progression and regression as assessed by 3Tesla MRI measurements in patients with HoFH ...
Lomitapide may be used to further decrease LDL-C in HoFH patients; gastrointestinal side effects and hepatic toxicity may limit adherence.
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Supplementary MaterialsS1 Table: Breed particular Runs of Homozygosity (ROH) in Holsteiner, Hanoverian, Oldenburger and Trakehner. = 221). Those breeds are bred for athletic efficiency and aptitude for show-jumping currently, eventing or dressage, with a specific concentrate of Holsteiner in the initial discipline. Blood examples had been collected through the wellness exams from the stallion preselections before licensing and had been genotyped using the Illumina EquineSNP50 BeadChip. Autosomal markers had been useful for a multi-method seek out indicators of positive selection. Analyses within and across breeds had been conducted utilizing the integrated Haplotype Rating (iHS), cross-population Expanded Haplotype Homozygosity (xpEHH) and Works of Homozygosity (ROH). Oldenburger and Hanoverian demonstrated virtually identical iHS signatures, but breed of dog specificities had been discovered on multiple chromosomes using the xpEHH. The Trakehner clustered as a definite group within a primary ...
PHENOTYPE: Homozygous null mutants are viable and fertile and show no apparent defects in development, adult histology or basic functional parameters. However, a transitory renal phenotype, characterized by increased ureteric branching and enlarged kidneys, is noted over early stages of renal development. [provided by MGI curators ...
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Heterozygote / homozygote. A heterozygote is an individual having two different alleles at a genetic locus; a homozygote is an individual having two copies of the same allele at a locus. The term homozygote is also sometimes applied to larger genetic entities, such as a whole chromosome: a homozygote is then an individual having two copies of the same chromosome ...
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Summary of revised Environmental Protection and Management Act (EPMA) in Singapore (SG RoHS 2016) and differences from EU RoHS 2.
In August 2015, we claimed that the main target FH review fulfilled its Key efficacy endpoint, a statistically important reduction in LDL-cholesterol soon after 60 weeks of treatment of once weekly injections of two hundred mg of KYNAMRO when compared to placebo. LDL-cholesterol reduction was just like that observed in prior Phase three research. Additionally, based upon the information available for overview, the protection profile of KYNAMRO observed in the main target FH demo was similar to the security profile described in earlier Section 3 research. About Homozygous Familial Hypercholesterolemia HoFH is usually a scarce genetic ailment characterized by extreme cholesterol degrees ...
Regenerons new med Evkeeza already sports an approval in the ultra-rare disease homozygous familial hypercholesterolemia, which is associated with extreme
Lh patite B occulte correspond la pr sence de lADN du virus de lh patite B dans le s rum et/ou dans le foie dun patient malgr la n gativit de lAgHBs. Cest une forme clinique habituellement asymptomatique. Sa r activation est rare et survient en g n ral chez le sujet immunod prim . Nous rapportons un cas dun patient s n galais de 21 ans, dr panocytaire homozygote, qui pr sentait un ict re de type cholestatique chez qui lexploration biologique concluait a une r activation dune h patite B occulte. Cette observation souligne la n cessit de rechercher syst matiquement une r activation dune h patite B occulte devant toute h patopathie aigue chez le dr panocytaire.
D: The skeleton of a wild-type mouse (right) and Wwtr1tm1Whun/Wwtr1tm1Whun mouse (left) embryos stained with Alizarin red and Alcian blue to stain bone (red) and cartilage (blue), respectively. Note the slightly shorter skeleton of the homozygous mouse embryo. G & H: Hematoxylin and eosin staining of longitudinal kidney sections from 8 week old wild-type (G) and homozygous mutant mouse (H), showing numerous cysts in the corticomedullary region of the homozygous mouse kidney. Magnification: x20 ...
This database contains the application exemptions listed in Annexes III and IV to RoHS (2011/65/EU). Annex III contains applications exempted from the restriction in Article 4(1), while Annex IV lists applications exempted from the restriction in Article 4(1) specific to medical devices and monitoring and control instruments. ...
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Solution for Homozygosity for extremely rare mutations in a humangene called SCN9A cause complete insensitivity topain (congenital pain insensitivity or CPA)…
If one parent is a wild-type mouse and the other is a homozygous knockout mouse, their offspring will be heterozygous at the knockout gene. The mouse will likely produce the protein from the wild-type copy of the gene, but depending on how the gene is regulated it is likely that expression of the protein will be below wild-type levels ...
Das ABCA1-Gen ist ein membranständiges Transportprotein, welches insbesondere für den Cholesterintransport zuständig ist. Mutationen zeigen eine codominante Vererbung. Während heterozygote Anlageträger deutlich erniedrigte HDL-Werte aufweisen und damit ein deutlich erhöhtes Coronarrisiko besitzen, erkranken homozygote oder compound heterozygote Anlageträger an einer Tangier-Erkrankung.. ...
WEEE - In 2007 the final set of Producer obligations under the WEEE Regulations of 2006 and 2007 came into force. Producers, both B2C and B2B, should now be fully compliant with the WEEE Directives 2002/96/EC, 2003/108/EC and 2008/34/EC and their associated national regulations. Canford has taken steps to ensure the compliance of both itself and its numerous suppliers and is registered as a producer.. Canfords WEEE registration number is WEE/KG0116XU.. Batteries - Canford has registered with the Environment Agency as a small producer. Registration No. BPRN00208.. REACH - The latest additional SVHCs (Substances of Very High Concern) have now been added to the Candidate List produced by ECHA (European Chemicals Agency), there are now 29 substances listed which may require companies to respond with data to ECHA. See ECHA website.. ...
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 ...
And 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 ...
... the typical homozygote; the rare homozygote (bimacula) and the heterozygote (medionigra). It was studied there by E. B. Ford, ...
"Homozygotes for Huntington's disease" (PDF). Nature. 326 (6109): 194-7. Bibcode:1987Natur.326..194W. doi:10.1038/326194a0. hdl: ...
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 whittish ... 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 ...
... 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 ...
Homozygote mutant males had a decreased body weight and abnormal tooth morphology; females had decreased forepaw grip strength ...
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 ...
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 ...
It is also possible that the varied origins of Pulos and Hutt's white horses might be responsible for the lack of homozygotes. ... Horses heterozygous for W15 tend to be partially white, while homozygotes are fully white. W16 is found in the Oldenburger and ... The possibility that any of these might have been homozygotes is refuted by the fact that similar conditions caused death of ... Wriedt described a range of what he considered to be homozygote phenotypes: all-white, white with pigmented flecks, or ...
M. le Ministre, pour sa part a rappelé que: « Au Congo, la drépanocytose dans sa forme homozygote affecte 2% des naissances ... de lancement du séminaire-atelier sur la prise en charge des infections respiratoires aigües chez le drépanocytaire homozygote ... de lancement du séminaire-atelier sur la prise en charge des infections respiratoires aigües chez le drépanocytaire homozygote ... des districts sanitaires sur la prise en charge des infections respiratoires aigües chez le drépanocytaire homozygote dans le ...
Homozygote Humans Incidence Iron Overload Liver Mutation Penetrance Prevalence Severity Of Illness Index Penetrance ... Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes ... estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes Personal Author(s) : Grosse, Scott D ... estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes. ...
P14 homozygotes. In contrast to the heterozygote, the pattern of P0, MAG, and NCAM staining in the P14 homozygote suggested ... Adult homozygotes. Figure 5 has four different fields showing sodium channel immunocytochemistry in adult homozygote sciatic ... Note that there are differences in each set of panels between the heterozygote and the homozygote. P14 homozygote has less P0 ( ... and the progeny were screened for homozygotes. clp homozygotes were identified within 2 d of birth by the characteristic ...
Clinical consequences of iron overload in hemochromatosis homozygotes. Richard S Ajioka, James P Kushner ...
Homozygotes. Heterozygotes. Population. Healthy Caucasian, %†. 40. 10. 50. 50. European, with sporadic CJD, %. 67. 17. 84. 16. ...
Homozygote * Humans * Image Processing, Computer-Assisted * Immunohistochemistry * Leukoencephalopathies / pathology * Magnetic ...
Homozygotes: leukemia, lymphoma, cerebella ataxia, immune deficiency, telangiectasias. Hereditary Diffuse Gastic Cancer ...
Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (See Etiology, Prognosis, Presentation, and Workup.
Homozygote for Huntington disease. Am. J. Hum. Genet. 45, 615-618 (1989). ...
Genes that carry contrasting inheritance factors are called _____. a.heterozygotes b.homozygotes c.alleles. ... Genes that carry contrasting inheritance factors are called _____. a.heterozygotes b.homozygotes c.alleles ...
The screen was typically performed on viable adult homozygote mutants, or heterozygotes in the case of mutants with homozygote ... The specific allele types are listed in Supplementary Data 2 and homozygotes are designated −/− in the text for simplicity. ...
Homozygote. EN. dc.subject. Muscular Atrophy, Spinal/classification. EN. dc.subject. Mutation. EN. ...
Homozygotes/compound heterozygotes. Individuals who are homozygous for the pathogenic variant p.Met694Val or compound ... Prevention of primary manifestations: Homozygotes for the p.Met694Val pathogenic variant or compound heterozygotes for p. ... The A5 allele had a protective effect against amyloidosis in some p.Met694Val homozygotes [Turkcapar et al 2007]. ... The A9 allele exacerbated the age of onset in p.Met694Val homozygotes [Medlej-Hashim et al 2004]. ...
C282Y homozygotes and, possibly, C282Y/H63D compound heterozygotes, appear to be at risk for clinical iron overload. [29] The ... 46] ; in a report, 1 in 227 white individuals were homozygotes for the HFE C282Y mutation. [47] The highest reported prevalence ... C282Y homozygotes account for 82-90% of clinical diagnoses of hereditary hemochromatosis among persons of northern European ... Olynyk et al reported that one quarter of patients who are homozygotes for the C282Y mutation did not express clinical or ...
Homozygote: An individual possessing a pair of identical pair of genes, either both normal, or both variant, at identical sites ...
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase ...
Various crosses demonstrated that Pseudozorro is dominant and lethal when homozygote. Its expression is quite variable, ... and homozygote BB (bigger short arms). In the first nest, both SB and SS workers were observed. The other nest contained ...
... inhibition being typical for a homozygote atypical CHE variant. ...
Only Homozygote patients form Cysteine Stones. * Cysteine dissolves poorly at normal Urine pH. *Calculi form at cysteine ...
anxiety; hydrocortisone; stress response; stem cells; adult; embryo; hypothalamus; homozygote; larva; mental disorders; neurons ...
Five genetic models, i.e., allele (A vs G), homozygote (AA vs GG), heterozygote (AG vs GG), dominant (AA+AG vs GG) and ... homozygote (AA vs GG P Beggs=0.436, P Eggers=0.240); heterozygote (AG vs GG: P Beggs=0.212, P Eggers=0.301); dominate (AA+AG vs ... homozygote (AA vs GG: OR=8.512, 95% CI=3.740-19.373, P≤0.001); dominate (AA+AG vs GG: OR=1.869, 95% CI=1.161-3.008, P=0.010); ... homozygote (AA vs GG: OR=8.134, 95% CI=3.255-20.330, P≤0.001); dominant (AA+AG vs GG: OR=1.710, 95% CI=1.043-2.774, P=0.033); ...
This is why in our simulation we assumed that only 15% (i.e. m = 0.15) of homozygotes would have the chance of producing ... The remaining 15% of the homozygotes who marry (because of the restriction on marriage of 2 gene carriers) had to marry a ... RÉSUMÉ Nous avons recouru à la simulation par ordinateur pour déterminer la variation du gène, les fréquences homozygotes et ... This mechanism at first produces a slight increase in fhetero, but with the absence of homozygote individuals after the first ...
compared to wt homozygotes. RGD. non-alcoholic steatohepatitis induced. IAGP. XCO:0000025, XCO:0000246,XCO:0000164. 21076282. ...
In addition, homozygotes exhibit atypical lymphocyte morphhology and splenomegaly. Gene Ontology. (GO). Classifications ...
Mice homozygote for the Lp mutation suffer from a very severe form of neural tube defect called craniorachischisis. This ...
Figure 6 CASQ1 antibody titer and wild-type rs2275703 homozygote genotypes.. Notes: Significant correlation was observed ... Figure 6 shows significant correlation between mean (± SE) CASQ1 antibody titer and wild-type rs2275703 homozygote genotypes, ... and rare homozygote (AA). rs3747673 is in intron 2 of CASQ1 gene, and the change in nucleotide is from C , T; therefore, ... for wild-type homozygote genotypes, respectively, but not for the heterozygote genotypes (Mann-Whitney test: P=NS).. ...
... homozygotes). No association between diagnostic category and APOEε4 emerged (p = 0.366). The most frequent symptoms at ...
A, RsaI site present homozygote; B, heterozygote; C, RsaI site absent homozygote. Ctrl, control. ... A, RsaI site present homozygote; B, heterozygote; C, RsaI site absent homozygote. Ctrl, control. ... A, RsaI site present homozygote; B, heterozygote; C, RsaI site absent homozygote. ... There were three genotypes of CYP2E1 resulting from digestion with the restriction enzyme RsaI: type A, the common homozygote ...
  • Homozygotes for the p.Met694Val pathogenic variant or compound heterozygotes for p.Met694Val and another disease-causing allele require lifelong treatment with colchicine (1-2 mg/day orally in adults and 0.5-1 mg/day in children according to age and weight). (
  • Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency. (
  • With the exception of the extremely rare mutations, only those individuals born to 2 gene carriers (heterozygotes or homozygotes) may develop thalassaemia major. (
  • For example, we can do the crossing of the heterozygotes with homozygotes and we get this result which is very easy to understand, and Mendel worked out also the transmission not just of a single trait, but two different traits and he announced a law of independence of the transmission of one and the other. (
  • Note: Does not distinguish between heterozygotes and homozygotes! (
  • Heterozygotes are WT with pharyngeal GFP signal, and segregate WT GFP, arrested nT1[qIs51] aneuploids, and non-GFP ok3074 homozygotes (sterile with no eggs, often with vulval blip). (
  • Homozygote phenotype is expected to be similar to hemizygote phenotype. (
  • All sy1 homozygotes are viable, and sy1 complements all known let-23 alleles for the Lethal phenotype. (
  • PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. (
  • 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. (
  • 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. (
  • Using alleles defined in homozygotes, it combined them to produce expected genotypes that were dismissed and subtracted them from remaining genotypes to define additional new putative alleles. (
  • In addition, homozygotes exhibit atypical lymphocyte morphhology and splenomegaly. (
  • When stratifying the sample by including only patients with an adequate period of observation (duration of illness higher than 5 years, n = 69), we post-hoc observed a significantly higher recurrence rate in homozygotes for the C variant, which was almost double than that of the other genotype groups. (
  • DRD2 C957T was significantly associated with executive function, with CC homozygotes having significantly reduced performance in spatial working memory and spatial planning. (
  • Here you can see that there is the apparition of the double homozygotes. (
  • just in one proportion of the sixteen: the double homozygote recessive. (
  • 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. (
  • However, a homozygote for an identifiable allele can often be produced without inbreeding in its recent ancestry. (
  • Within the current examine, we noticed a homozygote with the SLC12A1 threat allele over a long-term interval. (
  • 9 We demonstrated higher stimulated tumour necrosis factor α (TNF) production in TNF −857C homozygotes, allele specific binding of the transcription factor OCT1, and an interaction between OCT1 and NFκB within the TNF promoter. (
  • Homozygotes for the derived allele are quite a bit less massive, and a small amount shorter, than those without the allele, and heterozygotes are in between. (
  • Meta-analysis of Ala/Ala homozygotes more clearly demonstrated the association with greater insulin sensitivity of carriers of the Ala allele. (
  • CHRNA4 C/C homozygotes and DBH G allele carriers showed the best memory performance but also the greatest benefit of visuospatial attention on memory. (
  • Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. (
  • Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. (
  • Gene Therapy for APOE4 Homozygote of Alzheimer's Disease" (NCT03634007) is actively recruiting patients that have two copies of the APOE4 gene. (
  • Right here, the urine cells (UCs) derived from a 4-year-old feminine BS affected person with the homozygote SLC12A1 gene mutation p. (
  • Nevertheless, the signs of a homozygote with this mutation that don't lead to fetal demise haven't beforehand been tracked and evaluated. (
  • Homozygotes for a targeted null mutation exhibit abnormal ventricular gene expression followed by cardiomyopathy with hypertrophy and impaired contractile function. (
  • Homozygotes for a targeted mutation develop normally up to E6.0-E6.5, but become arrested and fail to gastrulate and form mesodermal cells. (
  • These results indicate that the G2037E COL7A1 mutation leads to increased epidermal retention of type VII collagen in vivo, and also suggests that homozygotes carrying this dominant GS mutation may have more severe phenotypes than heterozygotes. (
  • Homozygosity mapping failed to elucidate the causal mutation due to the accepted notion that, in consanguineous families, homozygote mutations cause disease. (
  • Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients. (
  • For the first mating we will use homozygote parents (this means that both allels are of the same type): the father is a rough hair (genotype: WhWh)and the mother is short haired (genotype: whwh). (
  • The higher fruit [Na + ] found when rootstock genotype was homozygote for SpHKT1 supports the thesis that scion HKT1 is loading Na + into the phloem sap in leaves and unloading it in sink organs. (
  • Samtlige 27 individer fra Svilandskanalen var homozygote og hadde en identisk genotype for alle seks undersøkte markører. (
  • The adaptive superiority of the heterozygous GENOTYPE with respect to one or more characters in comparison with the corresponding HOMOZYGOTE. (
  • Inbreeding results in an excess of homozygotes and hence a deficiency of heterozygotes. (
  • An excess of homozygotes was observed in samples from Scotland, Norway, and the Barents Sea. (
  • Halliday, J W. / Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histological hepatic iron index : a study of 192 cases . (
  • Option to incorporate theta correction into heterozygotes AND homozygotes or homozygotes only. (
  • The knowledge that the presence of APOE2 in APOE2/4 heterozygotes markedly reduces the APOE4 risk led to the development of a 1st generation preventative AD gene therapy delivering APOE2 to the brain of APOE4 homozygotes. (
  • In the present study, we hypothesized that a 2nd generation gene therapy using an adeno-associated virus (AAV) expressing therapeutic APOE2 with artificial microRNAs (miRNA) targeting endogenous APOE4 may further mitigate the risk and limit AD development of APOE4 homozygotes. (
  • Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer's dementia. (
  • This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). (
  • In cattle, heterozygous (Rr) offspring of red (RR) and white (rr) homozygotes produce the roan coat color (mixed red and white hairs). (
  • With the exception of the extremely rare mutations, only those individuals born to 2 gene carriers (heterozygotes or homozygotes) may develop thalassaemia major. (
  • In those treated with salbutamol, asthma exacerbations were greater in Arg16 homozygous patients than in Gly16 homozygotes, and Arg16 homozygotes treated with salbutamol had a higher exacerbation rate than Arg16 homozygotes treated with placebo. (
  • Lats1 or Lats2 knockout mice were generated, with the homozygotes showing embryonic lethality. (
  • A person with sickle cell disease is a sickle cell homozygote. (
  • 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). (
  • The genetic condition of a zygote, especially with respect to its being a homozygote or a heterozygote. (
  • I have been diagnosed with positive genetic thrombophilia along with XIII Homozygote. (
  • 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. (
  • The two egg color controlling genes b - 4 and re were found to be complementary, and the homozygote ( b - 4/b - 4 re/re ), a new egg color mutant, appeared as orange egg. (
  • Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. (
  • Heterozygotes are WT, and segregate WT, sterile ts-Dpy qC1 homozygotes, and viable Unc t1559 homozygotes that produce arrested embryos. (
  • Homozygotes are phenotypically normal at birth but develop cysts and die within 2-3 weeks. (
  • Long DRD4 carriers show superior performance relative to short DRD4 homozygotes (six or less tandem repeats) in both the category learning and OSPAN tasks. (
  • 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. (
  • [ 18 ] The increase in life expectancy of homozygotes means that affected females are getting pregnant more often than in the past. (
  • A homozygote originates during the fusion of gametes that are identical for a given gene. (
  • These subjects had been classified previously as heterozygotes (n = 18) or homozygotes (n = 174) according to clinical and familial data only. (
  • In nonhuman primates, the levels in the heart were comparable to levels in the range estimated necessary to convert the FA homozygote to an FA heterozygote, which based on prior research, present no clinical manifestations of FA. (
  • Because of the character of anonymized examples we don't have extra clinical information over the homozygote). (
  • These mice from The Jackson Laboratory are maintained as homozygotes. (
  • This observation is of concern, since PON1Q192 homozygotes comprise up to 50% of most populations. (
  • Hardy-Weinberg equilibrium analysis of the increase in resistance gene frequency in a parasite population where the initial R gene frequency is 10 -6 , heterozygotes and R gene homozygotes are fully resistant, and 75% of susceptible worms are lost to treatment each generation. (
  • When it has 50% A , it also has 50% a - and the population will have 25% AA homozygotes, 50% Aa heterozygotes, and 25% aa homozygotes - or 0.25 : 0.5 : 0.25. (
  • As in a, but 99% of resistant homozygotes do not survive to reproduce. (
  • Los individuos heterocigotos son sanos y tienen una función normal de los granulocitos en tanto que los homocigotos presentan ocasionalmente anomalías esqueléticas, retraso del desarrollo y convulsiones. (
  • Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. (
  • Saglio, G, Camaschella, C & Guerrasio, A 1982, ' G(γ) and A(γ) globin chain synthesis in bone marrow and peripheral blood of β-thalassaemia homozygotes ', British Journal of Haematology , vol. 52, no. 2, pp. 225-231. (
  • Le protocole utilisé dans le traitement du myélome multiple a été le VMCD-REV à 76,92% avec pour réponse thérapeutique complète chez 6 patients, 3 réponses partielles et 4 en cours de traitement. (
  • Homozygotes show retinal degeneration of early and slow progression. (
  • C) dys/dys homozygotes display reduced edn1 expression at 20 somites stage. (
  • Inbreeding also reduces fitness when heterozygotes are more fit than both homozygotes, but such overdominance is rare. (