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HeterozygoteHeterozygote DetectionHomozygoteAllelesGenotypeMutationPedigreePhenotypePolymorphism, GeneticGene FrequencyThalassemiaGenes, RecessiveHyperlipoproteinemia Type IHemoglobin A2Genetic VariationGenes, DominantDNA Mutational AnalysisGenes, LethalCrosses, GeneticBase SequenceHemoglobins, AbnormalHemochromatosisPolymerase Chain ReactionAtaxia TelangiectasiaGenetic Predisposition to DiseasePoint MutationHaplotypesHyperlipoproteinemia Type IIMutation, MissenseMolecular Sequence DataCystinuriaHypobetalipoproteinemiasTay-Sachs DiseaseExonsHemoglobin EJewsAdenine PhosphoribosyltransferaseGenetic LinkageMice, Mutant StrainsModels, GeneticFetal Hemoglobinalpha-ThalassemiaGenetic TestingPolymorphism, Single NucleotideHemoglobinopathiesChromosome MappingInbreedingGenetics, PopulationShrewsMice, KnockoutSandhoff DiseasePolymorphism, Restriction Fragment Lengthbeta-ThalassemiaGlucosephosphate Dehydrogenase DeficiencyDNAGenetic MarkersAmino Acid Metabolism, Inborn ErrorsPhenylketonuriasMicrosatellite RepeatsGlobinsFrameshift MutationSelection, GeneticLipid Metabolism, Inborn ErrorsCase-Control StudiesMetabolism, Inborn ErrorsCodon, NonsenseFabry DiseaseHypolipoproteinemiasConsanguinityHybrid VigorHexosaminidase AGene DeletionHomocystinuriaMice, Inbred C57BLLipidosesLecithin Acyltransferase DeficiencyCystic FibrosisApolipoproteins BCrossing Over, GeneticElectrophoresis, Starch GelLesch-Nyhan SyndromeDNA PrimersLipoprotein LipaseEthylnitrosoureaApolipoprotein B-100GenesSequence Analysis, DNAHaploidyalpha 1-Antitrypsin DeficiencyAlbinismChromosome InversionHemoglobin, SickleSequence Deletionbeta-N-AcetylhexosaminidasesFibroblastsHyperlipoproteinemias2-AminopurineAmino Acid SequenceLinkage DisequilibriumAsian Continental Ancestry GroupPolymorphism, Single-Stranded ConformationalFactor VAmino Acid SubstitutionHair ColorHemizygoteChromosomesDiploidyPurine-Pyrimidine Metabolism, Inborn ErrorsGlucosephosphate DehydrogenaseX ChromosomeXanthomatosisFounder EffectFamilial Mediterranean FeverHairIron OverloadRecombination, GeneticDrosophila melanogasterGene DosageItalyDwarfismErythrocytesIntronsTangier DiseaseSex ChromosomesSyndromeMembrane ProteinsGene TargetingCystinosisPenetranceHLA AntigensFamily HealthAdrenal Hyperplasia, CongenitalSex Chromosome AberrationsChromosome DeletionHyperargininemiaPrenatal DiagnosisFamily LeaveElectroretinographyMucopolysaccharidosis IICystic Fibrosis Transmembrane Conductance Regulatoralpha-GalactosidaseRNA, MessengerHLA-DRB3 Chainsalpha 1-AntitrypsinOrnithine Carbamoyltransferase Deficiency DiseaseInfant, NewbornRisk FactorsCodonFerritinsReceptors, LDLLeukocytesGenotyping TechniquesSickle Cell TraitEye ProteinsGenetic Complementation TestPregnancyGlycogen Storage Disease Type VEpistasis, GeneticEye AbnormalitiesAge of OnsetMice, TransgenicApolipoprotein A-IEmbryo LossBlotting, SouthernMice, Inbred StrainsHeteroduplex AnalysisLipoproteinsGaucher DiseaseIduronate SulfataseAnemia, Sickle CellHybridization, GeneticIronCzech RepublicCholesterolCells, CulturedMice, Neurologic MutantsSitosterolsGenetic Association StudiesFetal DeathGene Expression Regulation, DevelopmentalBlood Protein ElectrophoresisXeroderma PigmentosumLymphocytesAfrican Continental Ancestry GroupHistocompatibility Antigens Class ISweatIsoenzymesApolipoproteins ERetinitis PigmentosaCholesterol, HDLHexosaminidasesApolipoproteins ANeural Tube DefectsTyrosinemiasAnemia, Hemolytic, Congenital NonspherocyticRetinal DegenerationHemoglobin CGenetic HeterogeneityGenetic LoadReference ValuesEmbryo, Mammalian
Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Heterozygote Detection: Identification of genetic carriers for a given trait.Homozygote: An individual in which both alleles at a given locus are identical.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Mutation: 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.Pedigree: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Polymorphism, Genetic: 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.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Thalassemia: 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.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Hyperlipoproteinemia Type I: An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.Hemoglobin A2: An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.Genetic Variation: Genotypic differences observed among individuals in a population.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genes, Lethal: 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.Crosses, Genetic: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Hemoglobins, Abnormal: 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.Hemochromatosis: 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)Polymerase Chain Reaction: 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.Ataxia Telangiectasia: 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).Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Point Mutation: 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.Haplotypes: 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.Hyperlipoproteinemia Type II: 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).Mutation, Missense: 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)Molecular Sequence Data: 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.Cystinuria: An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.Hypobetalipoproteinemias: Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.Tay-Sachs Disease: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.Exons: 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.Hemoglobin E: 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.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Adenine Phosphoribosyltransferase: An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Models, Genetic: 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.Fetal Hemoglobin: 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.alpha-Thalassemia: 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.Genetic Testing: 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Hemoglobinopathies: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Genetics, Population: 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.ShrewsMice, Knockout: 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.Sandhoff Disease: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.Polymorphism, Restriction Fragment Length: 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.beta-Thalassemia: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.Glucosephosphate Dehydrogenase Deficiency: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.DNA: 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).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Globins: A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Case-Control Studies: 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.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Hypolipoproteinemias: 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).Consanguinity: The magnitude of INBREEDING in humans.Hybrid Vigor: The adaptive superiority of the heterozygous GENOTYPE with respect to one or more characters in comparison with the corresponding HOMOZYGOTE.Hexosaminidase A: A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.Gene Deletion: 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.Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)Mice, Inbred C57BLLipidoses: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.Lecithin Acyltransferase Deficiency: 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.Cystic Fibrosis: 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.Apolipoproteins B: 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.Crossing Over, Genetic: The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.Electrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)DNA Primers: 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.Lipoprotein Lipase: An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34.Ethylnitrosourea: A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.Apolipoprotein B-100: A 513-kDa protein synthesized in the LIVER. It serves as the major structural protein of low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). It is the ligand for the LDL receptor (RECEPTORS, LDL) that promotes cellular binding and internalization of LDL particles.Genes: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.alpha 1-Antitrypsin Deficiency: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.Albinism: 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.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Hemoglobin, Sickle: An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.beta-N-Acetylhexosaminidases: A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Hyperlipoproteinemias: Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.2-Aminopurine: A purine that is an isomer of ADENINE (6-aminopurine).Amino Acid Sequence: 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.Linkage Disequilibrium: 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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Factor V: 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.Amino Acid Substitution: 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.Hair Color: Color of hair or fur.Hemizygote: An individual having only one allele at a given locus because of the loss of the other allele through a mutation (e.g., CHROMOSOME DELETION).Chromosomes: 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)Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Purine-Pyrimidine Metabolism, Inborn ErrorsGlucosephosphate DehydrogenaseX Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Xanthomatosis: 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.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Familial Mediterranean Fever: 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.Hair: A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.Iron Overload: An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.ItalyDwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Introns: 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.Tangier Disease: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Syndrome: A characteristic symptom complex.Membrane Proteins: 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.Gene Targeting: 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.Cystinosis: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.Penetrance: 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)HLA Antigens: 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.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Adrenal Hyperplasia, Congenital: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Chromosome Deletion: Actual loss of portion of a chromosome.Hyperargininemia: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Family Leave: The authorized absence from work of a family member to attend the illness or participate in the care of a parent, a sibling, or other family member. For the care of a parent for a child or for pre- or postnatal leave of a parent, PARENTAL LEAVE is available.Electroretinography: Recording of electric potentials in the retina after stimulation by light.Mucopolysaccharidosis II: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.Cystic Fibrosis Transmembrane Conductance Regulator: 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)alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.RNA, Messenger: 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.HLA-DRB3 Chains: A subtype of HLA-DRB beta chains that includes over 50 allelic variants. The HLA-DRB3 beta-chain subtype is associated with HLA-DR52 serological subtype.alpha 1-Antitrypsin: Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)Infant, Newborn: An infant during the first month after birth.Risk Factors: 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.Codon: 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).Ferritins: 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.Receptors, LDL: Receptors on the plasma membrane of nonhepatic cells that specifically bind LDL. The receptors are localized in specialized regions called coated pits. Hypercholesteremia is caused by an allelic genetic defect of three types: 1, receptors do not bind to LDL; 2, there is reduced binding of LDL; and 3, there is normal binding but no internalization of LDL. In consequence, entry of cholesterol esters into the cell is impaired and the intracellular feedback by cholesterol on 3-hydroxy-3-methylglutaryl CoA reductase is lacking.Leukocytes: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Sickle Cell Trait: The condition of being heterozygous for hemoglobin S.Eye ProteinsGenetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Glycogen Storage Disease Type V: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.Epistasis, Genetic: 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.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Age of Onset: 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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Apolipoprotein A-I: 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.Embryo Loss: Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.Heteroduplex Analysis: A method of detecting gene mutation by mixing PCR-amplified mutant and wild-type DNA followed by denaturation and reannealing. The resultant products are resolved by gel electrophoresis, with single base substitutions detectable under optimal electrophoretic conditions and gel formulations. Large base pair mismatches may also be analyzed by using electron microscopy to visualize heteroduplex regions.Lipoproteins: 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.Gaucher Disease: 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.Iduronate Sulfatase: An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.Anemia, Sickle Cell: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Iron: 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.Czech Republic: Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.Sitosterols: A family of sterols commonly found in plants and plant oils. Alpha-, beta-, and gamma-isomers have been characterized.Genetic Association Studies: 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.Fetal Death: Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Blood Protein Electrophoresis: Electrophoresis applied to BLOOD PROTEINS.Xeroderma Pigmentosum: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Histocompatibility Antigens Class I: 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.Sweat: The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products.Isoenzymes: Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.Apolipoproteins E: 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.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Cholesterol, HDL: Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.Hexosaminidases: Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.Apolipoproteins A: 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.Neural Tube Defects: 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)Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)Anemia, Hemolytic, Congenital Nonspherocytic: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)Hemoglobin C: A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Genetic Load: The relative amount by which the average fitness of a POPULATION is lowered, due to the presence of GENES that decrease survival, compared to the GENOTYPE with maximum or optimal fitness. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Reference Values: 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.Embryo, Mammalian: 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.

Mapping of the homothallic genes, HM alpha and HMa, in Saccharomyces yeasts. (1/10346)

Two of the three homothallic genes, HM alpha and HMa, showed direct linkage to the mating-type locus at approximately 73 and 98 strans (57 and 65 centimorgans [cM], respectively, whereas, the other, HO, showed no linkage to 25 standard markers distributed over 17 chromosomes including the mating-type locus. To determine whether the HM alpha and HMa loci located on the left or right side of the mating-type locus, equations for three factor analysis of three linked genes were derived. Tetrad data were collected and were compared with expected values by chi 2 statistics. Calculations indicated that the HM alpha gene is probably located on the right arm at 95 strans (65 cM) from the centromere and the HMa locus at approximately 90 strans (64 cM) on the left arm of chromosome III.  (+info)

The Drosophila kismet gene is related to chromatin-remodeling factors and is required for both segmentation and segment identity. (2/10346)

The Drosophila kismet gene was identified in a screen for dominant suppressors of Polycomb, a repressor of homeotic genes. Here we show that kismet mutations suppress the Polycomb mutant phenotype by blocking the ectopic transcription of homeotic genes. Loss of zygotic kismet function causes homeotic transformations similar to those associated with loss-of-function mutations in the homeotic genes Sex combs reduced and Abdominal-B. kismet is also required for proper larval body segmentation. Loss of maternal kismet function causes segmentation defects similar to those caused by mutations in the pair-rule gene even-skipped. The kismet gene encodes several large nuclear proteins that are ubiquitously expressed along the anterior-posterior axis. The Kismet proteins contain a domain conserved in the trithorax group protein Brahma and related chromatin-remodeling factors, providing further evidence that alterations in chromatin structure are required to maintain the spatially restricted patterns of homeotic gene transcription.  (+info)

Mrj encodes a DnaJ-related co-chaperone that is essential for murine placental development. (3/10346)

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. (4/10346)

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)

Factor VII deficiency rescues the intrauterine lethality in mice associated with a tissue factor pathway inhibitor deficit. (5/10346)

Mice doubly heterozygous for a modified tissue factor pathway inhibitor (TFPI) allele (tfpi delta) lacking its Kunitz-type domain-1 (TFPI+/delta) and for a deficiency of the factor VII gene (FVII+/-) were mated to generate 309 postnatal and 205 embryonic day 17.5 (E17. 5) offspring having all the predicted genotypic combinations. Progeny singly homozygous for the tfpidelta modification but with the wild-type fVII allele (FVII+/+/TFPIdelta/delta), and mice singly homozygous for the fVII deficiency and possessing the wild-type tfpi allele (FVII-/-/TFPI+/+), displayed previously detailed phenotypes (i.e., a high percentage of early embryonic lethality at E9.5 or normal development with severe perinatal bleeding, respectively). Surprisingly, mice of the combined FVII-/-/TFPIdelta/delta genotype were born at the expected mendelian frequency but suffered the fatal perinatal bleeding associated with the FVII-/- genotype. Mice carrying the FVII+/-/TFPIdelta/delta genotype were also rescued from the lethality associated with the FVII+/+/TFPIdelta/delta genotype but succumbed to perinatal consumptive coagulopathy. Thus, the rescue of TFPIdelta/delta embryos, either by an accompanying homozygous or heterozygous FVII deficiency, suggests that diminishment of FVII activity precludes the need for TFPI-mediated inhibition of the FVIIa/tissue factor coagulation pathway during embryogenesis. Furthermore, the phenotypes of these combined deficiency states suggest that embryonic FVII is produced in mice as early as E9.5 and that any level of maternal FVII in early-stage embryos is insufficient to cause a coagulopathy in TFPIdelta/delta mice.  (+info)

Loss-of-function mutations in the rice homeobox gene OSH15 affect the architecture of internodes resulting in dwarf plants. (6/10346)

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)

Thyroid hormone effects on Krox-24 transcription in the post-natal mouse brain are developmentally regulated but are not correlated with mitosis. (7/10346)

Krox-24 (NGFI-A, Egr-1) is an immediate-early gene encoding a zinc finger transcription factor. As Krox-24 is expressed in brain areas showing post-natal neurogenesis during a thyroid hormone (T3)-sensitive period, we followed T3 effects on Krox-24 expression in newborn mice. We analysed whether regulation was associated with changes in mitotic activity in the subventricular zone and the cerebellum. In vivo T3-dependent Krox-24 transcription was studied by polyethylenimine-based gene transfer. T3 increased transcription from the Krox-24 promoter in both areas studied at post-natal day 2, but was without effect at day 6. An intact thyroid hormone response element (TRE) in the Krox-24 promoter was necessary for these inductions. These stage-dependent effects were also seen in endogenous Krox-24 mRNA levels: activation at day 2 and no effect at day 6. Moreover, similar results were obtained by examining beta-galactosidase expression in heterozygous mice in which one allele of the Krox-24 gene was disrupted with an inframe Lac-Z insertion. However, bromodeoxyuridine incorporation showed mitosis to continue through to day 6. We conclude first, that T3 activates Krox-24 transcription during early post-natal mitosis but that this effect is extinguished as development proceeds and second, loss of T3-dependent Krox-24 expression is not correlated with loss of mitotic activity.  (+info)

Angiotensinogen gene polymorphisms M235T/T174M: no excess transmission to hypertensive Chinese. (8/10346)

The gene encoding angiotensinogen (AGT) has been widely studied as a candidate gene for hypertension. Most studies to date have relied on case-control analysis to test for an excess of AGT variants among hypertensive cases compared with normotensive controls. However, with this design, nothing guarantees that a positive finding is due to actual allelic association as opposed to an inappropriate control population. To avoid this difficulty in our study of essential hypertension in Anqing, China, we tested AGT variants using the transmission/disequilibrium test, a procedure that bypasses the need for a control sample by testing for excessive transmission of a genetic variant from parents heterozygous for that variant. We analyzed two AGT polymorphisms, M235T and T174M, which have been associated with essential hypertension in whites and Japanese, using data on 335 hypertensive subjects from 315 nuclear families and their parents. Except in the group of subjects younger than 25 years, M235 and T174 were the more frequently transmitted alleles. We found that 194 parents heterozygous for M235T transmitted M235 106 times (P=0.22) and that 102 parents heterozygous for T174M transmitted T174 60 times (P=0.09). Stratifying offspring by gender, M235 and T174 were transmitted 60 of 106 times (P=0.21) and 44 of 75 times (P=0.17), respectively, in men, and 46 of 88 times (P=0.75) and 16 of 27 times (P=0.44), respectively, in women. Our results were also negative in all age groups and for the affected offspring with blood pressure values >/=160/95 mm Hg. Thus, this study provides no evidence that either allele of M235T or T174M contributes to hypertension in this Chinese population.  (+info)

Heterozygote Advantage - Agricultural Significance, Hypotheses Of Heterozygote Advantage, Heterozygote Superiority In Humans -...Heterozygote Advantage - Agricultural Significance, Hypotheses Of Heterozygote Advantage, Heterozygote Superiority In Humans -...
Heterozygote advantage is the superior fitness often seen in hybrids, the cross between two dissimilar parents. A heterozygote is an organism with two different alleles, one donated from each parent. Fitness means the ability to survive and have offspring. Heterozygote advantage also refers more narrowly to superior fitness of an organism that is heterozygous for a particular gene, usually one governing a disease.. Inbreeding is the practice of repeatedly crossing a single variety of organism with itself, in order to develop a more uniform variety. During this process, the organism becomes homozygous for many genes, meaning that its two gene copies are identical. This is often accompanied by loss of vigor: slower growth, less resistance to disease, and other signs of decreased fitness. This is known as inbreeding depression. Breeding with another variety (outcrossing) produces offspring that are heterozygous for many genes, and is often accompanied by an increase in size and vigor. This ...
Heterozygosis | Article about heterozygosis by The Free DictionaryHeterozygosis | Article about heterozygosis by The Free Dictionary
Looking for heterozygosis? Find out information about heterozygosis. the state, inherent in every hybrid organism, in which homologous chromosomes carry different forms of a given gene or differ in the arrangement of genes... Explanation of heterozygosis
Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics ...Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics ...
Double heterozygosity (DH) for BRCA1 and BRCA2mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is...
Fatty acid synthesis is essential in embryonic development: Fatty acid synthase null mutants and most of the heterozygotes die...Fatty acid synthesis is essential in embryonic development: Fatty acid synthase null mutants and most of the heterozygotes die...
The progressive absence of heterozygous mice in litters of F1 parents did not appear to be related to the age of the mice for the following reasons. Because chimeras and several breeders were lost in recent floods in Houston, we were forced to set up several breeding cages that contained 9- to 12-month-old males and females. All of these aged breeders produced litters that included both heterozygotes and WT pups in their first litters, similar to the data shown in Fig. 2 A.. To determine whether the loss of heterozygote F2 progeny in F1 heterozygote matings described above (Table 1 and Fig. 2 A) could be due to defective Fasn- gametes of males or females, or both, because they produce more litters, we set up six cages containing heterozygote males and WT C57/129 females and three cages containing C57/129 WT males and heterozygote females. As reported in Table 1, the litter size increased to about seven compared with about four pups obtained in the crosses with only heterozygote breeders. Also, ...
Changing of N-linked glycosylation in β1,4-GalT1 site-specific mutant mouse | EUROCARB 2019Changing of N-linked glycosylation in β1,4-GalT1 site-specific mutant mouse | EUROCARB 2019
β1,4-GalT1 is type II membrane-bound glycoprotein transferring galactose to acceptor sugars. This enzyme catalyzes the synthesis of lactose or transfers galactose to the terminal GlcNAc of complex-type N-glycans. Previous studies found that β1,4-GalT1 knock-out mouse showed semi-lethality after birth. We obtained a β1,4-GalT1 site-specific mutant mouse modelusing CRISPR/Cas9 in which tyrosine (Y286) were substituted by leucine (L286). This mutation makes β1,4-GalT1 an N-acetylgalactosaminetransferase instead of galactosyltransferase. No lethal deficiency was observed in both heterozygote (+/-) mice and homozygous (-/-) mice. However, homozygous (-/-) mice were unable to give birth and lactation. The further N-glycan profiling showed that homozygous (-/-) mouse serum have no sialylated N-glycans while heterozygote(+/-) mouse showed the similar pattern of N-glycosylation in serum compared with wild-type mouse. The results indicated that the functional changing of galactosyltransferase in ...
Expected phenotypes of offspring from a heterozygous maleExpected phenotypes of offspring from a heterozygous male
I am having trouble with this type of setup not sure about how to set up Punnett square to answer questions concerning homozygous vs.
Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancerMolecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer
About 1.4% of the general population are heterozygous carriers of the gene for ataxiatelangiectasia (A-T), an autosomal recessive progressive neurologic syndrome in which cancer incidence of homozygotes is approximately 100-fold greater than the general populations rates. The hypothesis that A-T he …
Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular...Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Patent US6144292 - Powerline communications network employing TDMA, FDMA and/or CDMA - Google PatentsPatent US6144292 - Powerline communications network employing TDMA, FDMA and/or CDMA - Google Patents
A communications apparatus is adapted for use with a mains electricity transmission and/or distribution network. The communications apparatus includes a signal transmission and/or reception means, and frequency conversion means for converting the frequency of a signal transmitted or received by the signal transmission and/or reception means to a frequency which facilitates improved propagation of the signal on the network. Preferably the signal transmission and/or reception means is adapted to operate according to a telephony standard with uses a relatively high carrier frequency (e.g. CT2), and the frequency conversion means is usable to covert a signal having a relatively high carrier frequency (e.g. CT2) and the frequency conversion means is usable to convert a signal having a relatively high carrier frequency to a signal having a lower carrier frequency.
Lexicon of Evolutionary GeneticsLexicon of Evolutionary Genetics
2 = 59.0, with 1 d.f. given by number of phenotypes minus number of alleles). Thus, after the frost a higher proportion of individuals possessing the heterozygous condition survive than predicted by the Hardy-Weinberg formula, and both homozygotes have lower than expected survival: the moth population can be said to have undergone a small amount of evolution. If there is no evolutionary change in subsequent generations, and random mating, then the allele frequencies of 0.771 (A) and 0.229 (a) will be maintained, establishing new genotype frequencies of 0.594:0.353:0.053. Where a trait is dominant, allelic frequencies cannot be calculated from the genotypic classes because the homozygous dominants cannot be differentiated from the heterozygotes. But for such traits, or for example a disease that is expressed only in the homozygous recessive state, assuming Hardy-Weinberg equilibrium makes it possible to calculate the proportion of a population that is heterozygous. If the genetic disease is ...
rs5984894 - SNPediars5984894 - SNPedia
rs5984894 is a SNP located within an intron of the protocadherin 11 PCDH11X gene, on the X chromosome. A study of 2,391 patients with late-onset Alzheimers disease reports that rs5984894 is particularly associated with increased risk for the disease in females, as compared to males. In this study, the patients were Americans of European descent, and 62% were female. Odds ratios were 1.75 (CI: 1.42-2.16) for female homozygotes (p = 2 x 10e-7) and 1.26 (CI: 1.05-1.51) for female heterozygotes (p = 0.01) compared to rs5984894(G;G) females.[PMID 19136949 ...
BISC 219/F10: Assignment Help- Data Analysis 1 - OpenWetWareBISC 219/F10: Assignment Help- Data Analysis 1 - OpenWetWare
Before you begin to write, you should objectively analyze the data collected by the whole course (combined 5 lab sections). You learned from the phenotype of the heterozygous male progeny (from the cross between N2 wild type males and the Dpy Unc hermaphrodites) which strain has the x-linked mutation. Do the data from the scoring, support that conclusion that the mutations are unlinked in this strain? Note that the expected 9:3:3:1 ratio of F2 progeny of the dihybrid selfing in this strain isnt perfect. Does that mean that the two genes responsible for the two phenotypic defects arent really on different chromosomes? Do these data better support linkage? You could do a statistical test for goodness of fit (such as a Chi square) to see if it is likely that the differences between what we observed and what we expected are due to chance and, if so, that we can accept our conclusion with more confidence. Unfortunately, the Chi square test is used with a specific kind of cross that we didnt do, so ...
Difference between revisions of Course:Gaucher disease - UBC WikiDifference between revisions of "Course:Gaucher disease" - UBC Wiki
A diagnosis of GD has implications for other family members and family planning. Therefore, it is important to speak with a genetic counsellor who can help you make decisions about further testing.[10][11]. Mentioned above, GD is inherited in an autosomal recessive fashion, meaning that if a couple has a child with GD, it is almost always the case that they are both unaffected carriers. This means that they both have a gene change in one copy the GBA gene, and the other copy is functional. At conception, siblings of a person with GD have a 25% chance of also being affected with GD, 50% chance that they are carriers like their parents, and a 25% chance of being unaffected and non-carriers. After birth, if it is determined that the sibling is unaffected, then there is a 2/3 chance that he/she is a carrier. If a person with GD has children, then all of his/her children will be carriers ...
Jewish Genetic DiseasesJewish Genetic Diseases
There are a number of genetic disease for which persons of Jewish heritage (at least one grandparent) are more likely to be carriers of than the general population. Carriers are healthy individuals, unaffected by the disease for which they carry. If both parents are carriers of a gene mutation for the same condition, there is a 25% chance, with each pregnancy, of having an affected child. These diseases are all serious and can be fatal and or life altering to children born with them ...
ABCA1-GenABCA1-Gen
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.. ...
Verizon may debut more frequent device upgrades with supposed VZ Edge no-contract plan | AppleInsiderVerizon may debut more frequent device upgrades with supposed 'VZ Edge' no-contract plan | AppleInsider
A purportedly leaked training document from Verizon reveals Americas No. 1 cellular carrier may debut an enhanced subscriber plan dubbed VZ Edge, which will shorten the period customers have to wait between device upgrades.
Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: A systematic review and meta...Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: A systematic review and meta...
Aims: To assess efficacy and safety of HMG-CoA reductase inhibitor (statin) treatment in children and adolescents with heterozygous familial hypercholesterolaemia. Methods: MEDLINE, EMBASE, COCHRANE and Current Controlled Trials databases were searched. Study design, efficacy, and safety outcome-measures were extracted. Results of parallel-group randomised placebo controlled trials with low density (LDL) and high density lipoprotein cholesterol (HDL), and triglycerides as outcomes were pooled using standard meta-analytical methods. Results: One hundred and fifty seven of 1060 identified papers studied familial hypercholesterolaemia, and 18 papers reported 7 prospective case series, 1 non-randomised trial, 2 trials with active treatment control groups, and 8 parallel-group randomised placebo controlled trials (RCT). The RCTs randomised 947 children, aged 8-18 years, for periods of 6-96 weeks with an estimated 850 person-years follow-up. There were no differences in clinical or laboratory adverse
Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia - University of BristolEnablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia - University of Bristol
OBJECTIVES: Individuals with heterozygous familial hypercholesterolaemia (FH) are at high risk of developing cardiovascular disease (CVD). This risk can be substantially reduced with lifelong pharmacological and lifestyle treatment; however, research suggests adherence is poor. We synthesised the qualitative research to identify enablers and barriers to treatment adherence.. DESIGN: This study conducted a thematic synthesis of qualitative studies.. DATA SOURCES: MEDLINE, Embase, PsycINFO via OVID, Cochrane library and CINAHL databases and grey literature sources were searched through September 2018.. ELIGIBILITY CRITERIA: We included studies conducted in individuals with FH, and their family members, which reported primary qualitative data regarding their experiences of and beliefs about their condition and its treatment.. DATA EXTRACTION AND SYNTHESIS: Quality assessment was undertaken using the Critical Appraisal Skills Programme for qualitative studies. A thematic synthesis was conducted to ...
Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations |...Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations |...
Succinate-CoA ligase is a heterodimer enzyme composed of Suclg1 -alpha- and a substrate-specific Sucla2 or Suclg2 -beta- subunit yielding ATP or GTP, respectively. In humans, the deficiency of this enzyme leads to encephalomyopathy with, or without methylmalonyl aciduria, in addition to resulting in mitochondrial DNA depletion. We generated mice lacking either one Sucla2 or Suclg2 allele. Sucla2 heterozygote mice exhibited tissue- and age-dependent decreases in Sucla2 expression associated with decreases in ATP-forming activity, but rebound increases in cardiac Suclg2 expression and GTP-forming activity. Bioenergetic parameters including substrate-level phosphorylation were not different between wild type and Sucla2 heterozygote mice unless a submaximal pharmacological inhibition of succinate-CoA ligase was concomitantly present. mtDNA contents were moderately decreased, but blood carnitine esters were significantly elevated. Suclg2 heterozygote mice exhibited decreases in Suclg2 expression but ...
Double HeterozygosityDouble Heterozygosity
All content within the LPA Medical Resource Center, except where indicated, is 2018 Little People of America, Inc. All rights reserved. All other articles, documents and publications herein are copyrighted by their respective authors and are used by express permission. No content herein may be used elsewhere without express written permission from the copyright holder(s). Use of this site constitutes acceptance of its disclaimers ...
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular geneticsDiagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
... Academic Article Article ...
Heterozygous familial hypercholesterolemia (heFH) Ongoing Global Clinical Trials Analysis and OutlookHeterozygous familial hypercholesterolemia (heFH) Ongoing Global Clinical Trials Analysis and Outlook
Heterozygous familial hypercholesterolemia (heFH) ongoing clinical trials report provides comprehensive analysis and trends in global Heterozygous familial hype ...
Does Age Affect Alirocumab Efficacy in Heterozygous Familial Hypercholesterolemia? - The Cardiology AdvisorDoes Age Affect Alirocumab Efficacy in Heterozygous Familial Hypercholesterolemia? - The Cardiology Advisor
Alirocumab was found to be both safe and effective in reducing LDL-C in patients with heterozygous familial hypercholesterolemia.
Symptomatic female heterozygotes for adrenoleukodystrophy: A report of two unrelated cases and review of the literature - UCL...Symptomatic female heterozygotes for adrenoleukodystrophy: A report of two unrelated cases and review of the literature - UCL...
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
Do statins reduce cardiovascular risk in subjects with heterozygous familial hypercholesterolaemia? | Cardio DebateDo statins reduce cardiovascular risk in subjects with heterozygous familial hypercholesterolaemia? | Cardio Debate
Familial hypercholesterolemia (FH), characterized by markedly increased low-density lipoprotein (LDL) cholesterol concentrations, is a hereditary disorder of LDL-cholesterol metabolism. The condition is common as it affects 1 in 250 persons (1-3). The ...
The evolution of overdominance: natural selection and heterozygote advantage. - MRC Weatherall Institute of Molecular MedicineThe evolution of overdominance: natural selection and heterozygote advantage. - MRC Weatherall Institute of Molecular Medicine
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Plus itPlus it
Generation of mice. The generation of En-1lki (lacZ knock-in) embryonic stem (ES) cells and chimeric mice in which the bacterial gene coding for β-galactosidase (β-gal), lacZ, is inserted into theEn-1 locus has been described previously (Hanks et al., 1995). Using En-1 lki/+-targeted ES cells, we generated mouse lines using two independently targeted cell lines. Male chimeras were made using morula aggregation as described byNagy et al. (1993) and bred with CD1 females (Charles River Laboratories, Wilmington, MA) to transmit the allele through the germline.. Homozygote En-1 lki/lki embryos were obtained by intercrossing heterozygote mice at F2-F6 generations. The lines were maintained on an outbred CD1 background. En-1 lki/lki embryos were morphologically indistinguishable from En-1 hd/hd (homeodomain deletion) null mutant mice (Wurst et al., 1994) and were identified by genotyping using yolk sac DNA or by morphological criteria as described previously (Wurst et al., 1994). To obtain En-1 ...
what is the level of gene expression in a homozygote and heterozygote?what is the level of gene expression in a homozygote and heterozygote?
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 ...
Search Results :: GeneWeaverSearch Results :: GeneWeaver
Heterozygote mice from a hybrid cross of C57BL/6J and FVB/NJ had heightened EtOH consumption, preference or blood EtOH concentration compared to either homozygous groups. The magnitude of dominant deviation on Chr. 11, as noted in Fig. 9, was measured after a drinking in the dark paradigm, 24hr two-bottle-choice and subsequent blood ethanol concentration measurement ...
Combined drug therapy in heterozygous familial hypercholesterolemia | Kłosiewicz-Latoszek | Folia CardiologicaCombined drug therapy in heterozygous familial hypercholesterolemia | Kłosiewicz-Latoszek | Folia Cardiologica
The PDF file you selected should load here if your Web browser has a PDF reader plug-in installed (for example, a recent version of Adobe Acrobat Reader).. Alternatively, you can also download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download link below.. If you would like more information about how to print, save, and work with PDFs, Highwire Press provides a helpful Frequently Asked Questions about PDFs.. ...
The Rictor gene and its possible relation to ageing in miceThe Rictor gene and its possible relation to ageing in mice
Heterozygous male rictor+/- mice display a significantly decrease in median lifespan (40%) compared to wild-type controls. Liver- specific deletion of Rictor in male mice also resulted in a 30% decrease in median lifespan. In both models, the decrease in lifespan was associated by a decrease in the incidence of cancer. Inducibly deleting Rictor throughout the body in adult animals, results in a stronger phenotype with a median survival of less than 1 year. No significant changes were observed for female lifespan in any of the three models ...
rs10260404 - SNPediars10260404 - SNPedia
rs10260404, a SNP in the region of the DPP6 gene on chromosome 7, has been associated with the sporadic form of ALS (Lou Gehrigs disease) in a study of 1000+ European patients. The overall odds ratio for the risk allele rs10260404(C) is 1.30 (CI: 1.18-1.43, p=0.017). When broken down by genotype, the odds ratios for heterozygotes are 1.20 (CI: 1.06-1.41), and for rs10260404(C;C) homozygotes, 1.60 (CI: 1.32-1.92).[PMID 18084291] A "C-C" haplotype for this SNP and that of its neighbor rs10239794 is also highly (statistically; p=10e-9) associated with ALS. [PMID 18084291] However, in an expanded study pooling 4 populations (Irish, Dutch, US, Polish) rs10260404 failed to reach Bonferroni significance. although it did remain significant in the (expanded) Irish-only population.[PMID 18987618 ...
Re: what is the level of gene expression in a homozygote and heterozygote?Re: what is the level of gene expression in a homozygote and heterozygote?
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 ...
Fixing Gods mistakes by germline gene therapyFixing God's mistakes by germline gene therapy
In article ,6lual9$kbc$1 at nnrp1.dejanews.com,, ramanp at my-dejanews.com wrote: , Germline gene therapy is an important area of genetic engineering... [SNIP] Wouldnt it be wonderful to be able to prune some , unwanted deadly genes from our family trees forever? I would greatly , appreciate any thoughts, suggestions or comments that anybody might have on , this serious issue. Thanks, , Priya Raman , I guess the major problem that I have with germ line therapy is that it assumes we know what we are doing; it assumes we know all the activities of a particular gene/protein. The best example is sickle cell anemia. This can be a devasting disease in homozygotes. But heterozygotes are resistant to malaria. Does that make the sickle cell allele bad or good. Depends on the environment; probably depends on other genes. Can we safely say that there are unwanted genes or do we simply not know enough about the function of these unwanted alleles? I think the major problem with germ line therapy is our ...
Gene Expression Literature DetailGene Expression Literature Detail
J:70364 Kalinichenko VV, Lim L, Stolz DB, Shin B, Rausa FM, Clark J, Whitsett JA, Watkins SC, Costa RH, Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev Biol. 2001 Jul 15;235(2):489-506 ...
Melanoma Genetic Counseling and Test Reporting Improve Screening Adherence Among Unaffected Carriers 2 Years Later | Cancer...Melanoma Genetic Counseling and Test Reporting Improve Screening Adherence Among Unaffected Carriers 2 Years Later | Cancer...
Thank you for sharing this Cancer Epidemiology, Biomarkers & Prevention article.. NOTE: We request your email address only to inform the recipient that it was you who recommended this article, and that it is not junk mail. We do not retain these email addresses.. ...
GenotypeGVCFs - Unexpected homozygous/heterozygous genotypes near indels - GATK-ForumGenotypeGVCFs - Unexpected homozygous/heterozygous genotypes near indels - GATK-Forum
Hello, I found that GenotypeGVCFs in GVCF mode can lead to an unexpected homozygous or heterozygous genotypes when one SNP is called within an indel.
Nokia Fears Carriers May Try To Undermine N900 - SlashdotNokia Fears Carriers May Try To Undermine N900 - Slashdot
An anonymous reader writes Nokia is worried that networks may reject selling the N900 because it wont allow them to mess with the operating system. Nokia has previously showed the N900 running a root shell and it appears to use the same interface for IM and phone functions. Meanwhile, Verizon is...
Cystic fibrosis: A genetic disease - Health Tips | UniprixCystic fibrosis: A genetic disease - Health Tips | Uniprix
CF, also known as "mucoviscidosis," causes a build-up of mucus, which blocks the lungs, prevents food from being digested and damages the reproductive system. It is not contagious but is rather a hereditary condition passed on through genes. When two parents are carriers - that is, when each of them has 1 healthy gene and 1 defective gene - their children will have a 25 percent chance of developing CF, a 50 percent chance of being a carrier (without having the disease) and a 25 percent chance of not having CF or of being a carrier.. ...
acquiring stockacquiring stock
Every time new stock is obtained there is the chance of introducing pests or diseases to an existing flock, or to infect the new fowls with diseases already present. It may be the end of an heritage flock.. Birds vaccinated against a certain disease will not show the disease, but can transmit the organism and infect non-vaccinated fowls nevertheless.. Survivors of some diseases are carriers of the disease organism for life and can infect other birds.. Keeping more birds than can be comfortably housed is a good recipe for disaster.. ...
Cam4 afric, sheer velocity dating in the darkCam4 afric, sheer velocity dating in the dark
With a high probability more African primates than shown in Table 1 are carriers of an SIV, since for some species only a limited number of individuals
Immunohistochemical images of VE-cadherin at 5 and 20 w | Open-iImmunohistochemical images of VE-cadherin at 5 and 20 w | Open-i
Immunohistochemical images of VE-cadherin at 5 and 20 weeks of age. (A) 5W of heterozygotes, (B) 5W of homozygotes, (C) 20W of heterozygotes, (D) 20W of homozyg
Heterozygote | Profiles RNSHeterozygote | Profiles RNS
Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, ODriscoll M, Hannequin D, Campion D. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477 ...
Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria - Oxford Big Data...Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria - Oxford Big Data...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy of humans, affects over 400 million people. The geographical correlation of its distribution with the historical endemicity of malaria suggests that this disorder has risen in frequency through natural selection by malaria. However, attempts to confirm that G6PD deficiency is protective in case-control studies of malaria have yielded conflicting results. Hence, for this X-linked disorder, it is unclear whether both male hemizygotes and female heterozygotes are protected or, as frequently suggested, only females. Furthermore, how much protection may be afforded is unknown. Here we report that, in two large case-control studies of over 2,000 African children, the common African form of G6PD deficiency (G6PD A-) is associated with a 46-58% reduction in risk of severe malaria for both female heterozygotes and male hemizygotes. A mathematical model incorporating the measured selective advantage against malaria suggests that a
Matrix metalloproteinase-2 knockout and heterozygote mice are protected from hydronephrosis and kidney fibrosis after...Matrix metalloproteinase-2 knockout and heterozygote mice are protected from hydronephrosis and kidney fibrosis after...
Matrix Metalloproteinase-2 (Mmp2) is a collagenase known to be important in the development of renal fibrosis. In unilateral ureteral obstruction (UUO) the obstructed kidney (OK) develops fibrosis, while the contralateral (CL) does not. In this study we investigated the effect of UUO on gene expression, fibrosis and pelvic remodeling in the kidneys of Mmp2 deficient mice (Mmp2-/-), heterozygous animals (Mmp2+/-) and wild-type mice (Mmp2+/+). Sham operated animals served as controls (Cntrl). UUO was prepared under isoflurane anaesthesia, and the animals were sacrificed after one week. UUO caused hydronephrosis, dilation of renal tubules, loss of parenchymal thickness, and fibrosis. Damage was most severe in Mmp2+/+ mice, while both Mmp2-/- and Mmp2+/- groups showed considerably milder hydronephrosis, no tubular necrosis, and less tubular dilation. Picrosirius red quantification of fibrous collagen showed 1.63±0.25% positivity in OK and 0.29±0.11% in CL (p,0.05) of Mmp2+/+, Mmp2-/- OK and ...
Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...
The foregoing examples show that the finding of population heterozygote advantage, as in the infectious disease studies cited, does not support an inference of allele-specific overdominance, the condition of primary interest as an immunological hypothesis and a mechanism for the maintenance of MHC diversity. Put another way, population heterozygote advantage may appear due to a combination of the two distinct mechanisms we defined in the Introduction: the protective or detrimental effects of particular alleles (R and S alleles in our model), and the effects of heterozygosity itself. The effects of R and S alleles appear as effects of heterozygosity vs. homozygosity because heterozygotes and homozygotes will in general carry different distributions of S and R alleles; thus, in an analysis that fails to condition on the alleles carried, heterozygosity is confounded with the alleles carried.. One advantage of correctly separating the effects of individual alleles from the effects of heterozygosity ...
Patent US5592131 - System and method for modulating a carrier frequency - Google PatentsPatent US5592131 - System and method for modulating a carrier frequency - Google Patents
A carrier frequency modulating system and method for producing a modulated carrier frequency is disclosed. The system comprises a carrier frequency signal generator for producing a carrier frequency signal at a carrier frequency at an output thereof. The system further comprises a sequencer for producing a modulation signal at an output thereof. This modulation signal comprises a plurality of modulation signal portions separated by at least one null modulation signal portion having a corresponding time length. The system is provided with a modulator for producing a modulated carrier frequency signal at an output thereof. The modulator has a first input connected to the output of the carrier frequency signal generator for receiving the carrier frequency signal, and has a second input for receiving the modulation signal. The system further comprises a power supply unit for supplying electrical power to the carrier frequency signal generator. The sequencer is connected to the carrier frequency signal
Balancing selection - WikipediaBalancing selection - Wikipedia
In heterozygote advantage, or heterotic balancing selection, an individual who is heterozygous at a particular gene locus has a greater fitness than a homozygous individual. Polymorphisms maintained by this mechanism are balanced polymorphisms.[3] Due to unexpected high frequencies of heterozygotes, and an elevated level of heterozygote fitness, heterozygotic advantage may also be called "overdominance" in some literature. A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in shorter life expectancy. A person who inherits the sickle cell gene from one parent and a normal hemoglobin allele (HgbA) from the other, has a normal life expectancy. However, these heterozygote individuals, known as carriers of the sickle ...
JCI - Glucose toxicity and the development of diabetes in mice with muscle-specific inactivation of GLUT4JCI - Glucose toxicity and the development of diabetes in mice with muscle-specific inactivation of GLUT4
Several previous studies have examined the role of muscle glucose transport in whole body glucose homeostasis using genetically engineered mice with whole body GLUT4 disruption and have shown conflicting results (19-22). Katz and colleagues (19) have shown that mice with homozygous disruption of whole body GLUT4 have normal fasting plasma glucose and insulin concentrations (at 2-4 months of age). Similarly, Rossetti and colleagues (20) have shown that mice with heterozygous disruption of whole body GLUT4 (at 4-5 months of age) have normal plasma glucose concentration despite a significant decrease in insulin-stimulated muscle glucose transport. In contrast, Stenbit and colleagues (21) found that mice with heterozygous disruption of whole body GLUT4 develop a diabetes phenotype (e.g., hyperglycemia) associated with decreases in insulin-stimulated glucose transport in skeletal muscle. The reason for this discrepancy is unclear but may be due to a difference in the age of mice. In this regard, ...
Additive and heterozygotic effects on body weight traits of Charolais, Caracu and Charolais * Caracu crosses in Parana - Brazil...Additive and heterozygotic effects on body weight traits of Charolais, Caracu and Charolais * Caracu crosses in Parana - Brazil...
Records of 606 animals from a crossbreeding experiment between Charlolais (Ch) and Caracu (Ca), carried out at Estacao Experimental Fazenda Modelo, in ponta Grossa-PR, Brazil, from 1981 to 1992, were analyzed to estimate additive and heterozygotic effects on birth weight (BW), weaning weight (WW), daily gain from birtht to weaning (DBGW), yearling weight (YW) and daily gain from weaning to yearling (DGWY).. ...
Vmat2 Heterozygous Mutant Mice Display a Depressive-Like Phenotype | Journal of NeuroscienceVmat2 Heterozygous Mutant Mice Display a Depressive-Like Phenotype | Journal of Neuroscience
Anxiety is often comorbid with depression (Zimmerman et al., 2002). In rodents, some animal models of "depression" display anxiety-like responses (Bale et al., 2000; Schramm et al., 2001; Ansorge et al., 2004; Heim et al., 2004; Wei et al., 2004), whereas others do not (Overstreet, 1993). To determine whether Vmat2 mice show anxiety-like behaviors, animals were subjected to the open field, zero maze, light-dark exploration, and novelty-suppressed feeding tests. Because behaviors of WT and Vmat2 heterozygotes were indistinguishable among these tests, these findings suggest anxiety is not a comorbid feature of the VMAT2 phenotype. Interestingly, these results are similar to those for reserpine-treated hypertensive patients, where anxiety does not appear to accompany their depressive-like states (Freis, 1954).. A core symptom of depression is anhedonia (American Psychiatric Association, 1994). This behavior is modeled as an endophenotype in Flinders rats, learned helpless mice, the chronic mild ...
MUTATION RATE AND DOMINANCE OF GENES AFFECTING VIABILITY IN DROSOPHILA MELANOGASTER | GeneticsMUTATION RATE AND DOMINANCE OF GENES AFFECTING VIABILITY IN DROSOPHILA MELANOGASTER | Genetics
Spontaneous mutations were allowed to accumulate in a second chromosome that was transmitted only through heterozygous males for 40 generations. At 10-generation intervals the chromosomes were assayed for homozygous effects of the accumulated mutants. From the regression of homozygous viability on the number of generations of mutant accumulation and from the increase in genetic variance between replicate chromosomes it is possible to estimate the mutation rate and average effect of the individual mutants. Lethal mutations arose at a rate of 0.0060 per chromosome per generation. The mutants having small effects on viability are estimated to arise with a frequency at least 10 times as high as lethals, more likely 20 times as high, and possibly many more times as high if there is a large class of very nearly neutral mutations.-The dominance of such mutants was measured for chromosomes extracted from a natural population. This was determined from the regression of heterozygous viability on that of ...
Analysis of the p53 Gene and Its Expression in Human Glioblastoma CellsAnalysis of the p53 Gene and Its Expression in Human Glioblastoma Cells
Chromosome 17p has been shown to be an early and frequent target for loss of heterozygosity through mitotic recombination in astrocytomas. These losses are frequently accompanied by point mutations in the p53 gene of the remaining allele, resulting in loss of wild type p53 function. However, a fraction of astrocytomas retain constitutional heterozygosity and do not have p53 mutations; some of these lose wild type p53 activity through binding to the protein product of amplified mdnil genes. To test whether loss of wild type p53 biological function is a necessary step in astrocytoma progression we analyzed p53 expression and biological function in 13 glioma cell lines. All the cell lines expressed a 2.8-kilobase p53 transcript and showed various amounts of p53 protein by immunopre-cipitation, except for cell line LN-Z308 which had only a small truncated p53 mRNA and no protein expression. To test whether the p53 expressed in these cell lines was functionally wild type or mutant we transfected them ...
THE EFFECTS OF INBREEDING AT LOCI WITH HETEROZYGOTE ADVANTAGE | GeneticsTHE EFFECTS OF INBREEDING AT LOCI WITH HETEROZYGOTE ADVANTAGE | Genetics
The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.. Online ISSN: 1943-2631. ...
Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 - Full Text View -...Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study-2 - Full Text View -...
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
Underrepresentation of non-white children in trials of statins in children with heterozygous familial hypercholesterolemia -...Underrepresentation of non-white children in trials of statins in children with heterozygous familial hypercholesterolemia -...
Fingerprint Dive into the research topics of Underrepresentation of non-white children in trials of statins in children with heterozygous familial hypercholesterolemia. Together they form a unique fingerprint. ...
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. - PubMed - NCBIGuidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. - PubMed - NCBI
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Category:B6CBACa Aw-J/A-Kcnj6wv/J mouseCategory:B6CBACa Aw-J/A-Kcnj6wv/J mouse
Type: JAX GEMM Strain - Mutant Strain Ty … Type: JAX GEMM Strain - Mutant Strain Type: JAX GEMM Strain - Spontaneous Mutation TJL Mating System: Outcross-Intercross (Female x Male) TJL Breeding Summary: homozygote x B6CBACa-Aw-J/A F1 then obligate heterozygote x heterozygote Species: laboratory mouse Generation: N68F1 (07-NOV-05) Appearance white-bellied agouti, ataxic Related Genotype: Aw-J/? Kcnj6wv/Kncj6wv OR agouti, ataxic Related Genotype: A/A Kcnj6wv/Kncj6wv OR white-bellied agouti, unaffected Related Genotype: Aw-J/? +/? or Aw-J/A Kncj6wv/+ OR agouti, unaffected Related Genotype: A/A +/? or A/A Kncj6wv/+ Strain Description Mice homozygous for the weaver spontaneous mutation (Kcnj6wv) are recognizable in the second postnatal week by their small size, instability of gait, weakness, and hypotonia. Many homozygous mutant mice die at weaning age, but some survive to adulthood, and females may breed. The cerebellum in homozygous mutants is very small, simple, and almost devoid of granule ...
Impact of migration and fitness on the stability of lethal t-haplotype by Dannie Durand, Kristin Ardlie et al."Impact of migration and fitness on the stability of lethal t-haplotype" by Dannie Durand, Kristin Ardlie et al.
The t-haplotype is a chromosomal region in Mus musculus characterized by meiotic drive such that heterozygous males transmit t-bearing chromosomes to roughly 90% of their offspring. Most naturally occurring t-haplotypes express a recessive embryonic lethality, preventing fixation of the t-haplotype. Surprisingly, the t-haplotype occurs in nature as a persistent, low-frequency polymorphism. Early modeling studies led LEWONTIN to hypothesize that this low level polymorphism results from a balance between genetic drift in small demes and interdemic migration. Here, we show that while combination of deme size and migration rate that predict natural t-haplotype frequencies exist, the range of such values is too narrow to be biologically plausible, suggesting that small deme size and interdemic migration alone do not explain the observed t-haplotype frequencies. In response, we tested other factors that might explain the observed t-polymorphism. Two led to biologically plausible models: substantially reduced
heterozygote definition: Bee English Dictionary definition of heterozygoteheterozygote definition: Bee English Dictionary definition of heterozygote
definition of heterozygote - (genetics) an organism having two different alleles of a particular gene and so giving rise to varying offspring
On the evolution of dominance, over-dominance and balanced polymorphism | Proceedings of the Royal Society of London B:...On the evolution of dominance, over-dominance and balanced polymorphism | Proceedings of the Royal Society of London B:...
Recurrence relations are derived for the natural selection of a selective coefficient that is subject to additive genetic variations. Mathematical models are set up of the natural selection of the selective coefficient of the heterozygote. A general computer model of genetical populations is described and populations are set up to simulate genetic variation of the heterozygote. The theoretical models are applied to the spread of a gene under natural selection. If the heterozygote is initially intermediate between the two homozygotes, the evolution of semi-dominance, dominance or over-dominance depends on the genetic variance in fitness. Over-dominance evolves if the standard deviation in fitness due to genetic causes is about 0.7 times the difference between the initial heterozygote and homozygote fitnesses. The heterozygote will then continue to increase in fitness until the characters that determine the fitness are at their optimum values. Thus the polymorphism tends to become more stable. The ...
The Fragile X Files: What is Fragile X, you ask?The Fragile X Files: What is Fragile X, you ask?
Just because youve probably never heard of it doesnt mean its rare. Its really not all that rare; it affects one in 3600 boys and one in 4000 girls. One in 800 men are carriers of the gene that causes it. One in 260 women are carriers. Recent studies suggest that it might actually be one in 130 women. Its hard to tell because most of the time, you dont know you are a carrier until you have a child with it. ...
JCI - Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy geneJCI - Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene
Our observations provide direct genetic evidence that beclin 1, a gene that is monoallelically deleted in a high percentage of human breast, ovarian, and prostate cancers, is a haplo-insufficient tumor-suppressor and autophagy gene. To date, a number of different tumor-suppressor genes have been identified that function in different cellular process thought to be important in tumor suppression, including cell cycle regulation, DNA damage response, apoptosis regulation, and preservation of genomic stability (60). Our findings suggest that autophagy genes may represent a novel class of tumor-suppressor genes and that genetic disruption of autophagy may represent a novel mechanism of tumorigenesis.. While beclin 1 is the first downstream autophagy-execution gene linked to human cancer, it is important to note that certain oncogenes (e.g., PI3K and AKT) are already known to function in the negative regulation of autophagy (61, 62), and that the PTEN tumor-suppressor gene is known to function in the ...
Hardy-Weinberg law - Simple English Wikipedia, the free encyclopediaHardy-Weinberg law - Simple English Wikipedia, the free encyclopedia
It follows that any systematic change in the frequency of alleles in a population must be due to the effect of one or more of these causes. Of course, like all aspects of Mendelian inheritance, the expected proportions of alleles are probabilities. It was for that reason that statistical tests of significance, such as standard errors, were developed. Although all changes must be due to perturbations, not all perturbations lead to changes. The classic case is balancing selection, such as heterozygote advantage: "Heterosis: the heterozygote at a locus is fitter than either homozygote".[4][5][6] Balancing selection leads to an equilibrium population with Hardy-Weinberg proportions ...
Hardy-Weinberg law - Simple English Wikipedia, the free encyclopediaHardy-Weinberg law - Simple English Wikipedia, the free encyclopedia
It follows that any systematic change in the frequency of alleles in a population must be due to the effect of one or more of these causes. Of course, like all aspects of Mendelian inheritance, the expected proportions of alleles are probabilities. It was for that reason that statistical tests of significance, such as standard errors, were developed. Although all changes must be due to perturbations, not all perturbations lead to changes. The classic case is balancing selection, such as heterozygote advantage: "Heterosis: the heterozygote at a locus is fitter than either homozygote".[4][5][6] Balancing selection leads to an equilibrium population with Hardy-Weinberg proportions ...
Plus itPlus it
15-Lipoxygenase-2 (ALOX15B), an oxidoreductase in the metabolism of arachidonic acid, is a functional tumor suppressor whose expression is reduced in a variety of human cancers. To determine the roles of ALOX15B in carcinogenesis, we generated transgenic mice with ALOX8, the murine homolog of ALOX15B, knocked out. ALOX8 expression at mRNA level was abolished in homozygous knockout mice and reduced to half of wild type in heterozygous knockout mice. Its observed that homozygous female ALOX8 knockout mice are infertile but male ALOX8 knockout mice are fertile. Increased incidence of tumor as uni or multimass was found in the lung, prostate and in the mesentery region of homozygous and heterozygous ALOX8 knockout mice, when compared with little mate wild type mice. Histological evaluations showed an increase in secondary tumors and inflammation in different tissues like lung and large intestine in mice with ALOX8 knocked out. The transgenic mice could be a good model to study the role of ...
Publication : USDA ARSPublication : USDA ARS
Citation: Arias, R.S., Ballard, L.L., Scheffler, B.E. 2009. UPIC: Perl scripts to determine the number of SSR markers to run. Molecular markers in Horticulture Symposium, July 29-31, 2009, Corvallis, Oregon State University. Meeting Proceedings. Interpretive Summary: not required. Technical Abstract: We have developed Perl Scripts for the cost-effective planning of fingerprinting and genotyping experiments. The UPIC scripts detect the best combination of polymorphic simple sequence repeat (SSR) markers and provide coefficients of the amount of information obtainable (number of alleles of patterns) for each combination of markers. In addition, the Perl Script package calculates polymorphic information content (PIC) values for various types of fertilization in organisms, and the percentage of heterozygous loci for each DNA sample. UPIC group of scripts is a very useful tool to plan experiments maximizing the information obtainable at the lowest cost. ...
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal,...Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal,...
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017 ...
48-wk Open Label Phase IIIb to Evaluate Efficacy and Safety - Tabular View - ClinicalTrials.gov48-wk Open Label Phase IIIb to Evaluate Efficacy and Safety - Tabular View - ClinicalTrials.gov
A 48 Week, Open Label, Non-Comparative, Multicentre, Phase IIIb Study to Evaluate the Efficacy and Safety of the Lipid-Regulating Agent Rosuvastatin in the Treatment of Subjects With Fredrickson Type IIa and Type IIb Dyslipidaemia, Including Heterozygous Familial Hypercholesterolaemia ...
Electropherogram from affected family member III:4. Rep | Open-iElectropherogram from affected family member III:4. Rep | Open-i
Electropherogram from affected family member III:4. Representative electropherogram from the sense strand of genomic DNA showing (A) heterozygous G|A missens
Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--|A mutation: role of the beta...Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--|A mutation: role of the beta...
Thank you for your interest in spreading the word about Haematologica.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
Heterozygote < Genotypes << Genetics (Gene Physiology) <<< Cytogenetics @...Heterozygote < Genotypes << Genetics (Gene Physiology) <<< Cytogenetics @...
Heterozygote is an individual that as a genetic carrier has different alleles at one or more loci regarding a specific character.
Snps And ConservationSnps And Conservation
Hi, Im trying to investigate conservation in SNPs using Galaxy, but running into a few "issues" so Im probably not doing this the best way. Here is what I did in Galaxy: (1) Get some high heterozygosity missense SNPs from UCSC for chr21 (2) Get all Genes from UCSC for chr21 (3) Split the genes into codons using the "Gene BED to Codon BED expander" (4) Join the SNPs(1) to the Codons(2) using {Operate on genomic intervals}-,Join (5) Create a multiple alignment for the codons which had SNPs using {Fetch Alignments}-,{Extract MAF blocks} Some problems I found were: * The SNP file contains 149 regions but when joined to the Codons there are 311 items in the output. I was expecting one joined record per SNP. * The joined file contains many duplicate SNPs and missing SNPs * MAF blocks are all in same orientation but about half the codons should be in the reverse direction Can anyone offer advice? Thanks, Paul ****************************************************************** sample output ...
Genetics: Complex Inheritance, Sex Linkage, X-Inactivation - ppt video online downloadGenetics: Complex Inheritance, Sex Linkage, X-Inactivation - ppt video online download
Incomplete Dominance Heterozygous phenotype is a blend of the 2 homozygous phenotypes Ex. Red flower crossed with white flower  heterozygous flower is pink
Fragile X Carrier - www.ivf-infertility.comFragile X Carrier - www.ivf-infertility.com
Not Fragile X but either my husband or I (my genetic testing isnt being done until AF comes which shes 17 days late for) are carriers for a genetic disorder. We have a son who has microdeletion in 3 of his chromosomes. We are going to do PGD more than likely because our son has Autism, low muscle tone, and a bunch of other things as well. Its hard and its so stressful thinking this next baby could have it, too ...
hyphal > hypno >...hyphal > hypno >...
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 ...
Vici - NWO IRIS leaureates - Vrije Universiteit AmsterdamVici - NWO IRIS leaureates - Vrije Universiteit Amsterdam
Jolanda van der Velden receives the Vici grant for her research "The fight against toxic protein in hereditary heart diseases". A large number of people are carriers of a genetic defect in DNA that causes them to develop heart disease at a young age. Those people then get a very large heart, hypertrophic cardiomyopathy, that can not relax properly. In this study, we will be testing a number of medicines that may possibly prevent or inhibit this heart disease ...
Mosquito Pest Control | Diseases | Bulwark ExterminatingMosquito Pest Control | Diseases | Bulwark Exterminating
Mosquitoes are carriers of many diseases. Our technicians at Bulwark are dedicated to helping you be bug-free and feel safe at your home.
Sex and death in the cornfields: What is a refuge? - Biology Fortified Inc.Sex and death in the cornfields: What is a refuge? - Biology Fortified Inc.
If you ever had to do a Punnett square in science class, you might remember this means your kids are heterozygous- theyll have one resistant gene and one nonresistant gene. A gene is "dominant" if you see its effects in a heterozygous individual and "recessive" if you dont see its effects in a heterozygous individual. If resistance genes act dominant, then Farmer Joes Bt wont work on your kids. If resistant genes act recessive, the Bt will work. The real-life answer is (as always) a bit more complicated (see for example Kacser and Burns 1980). Most genes arent 100% dominant or recessive. Theyre partially dominant or recessive. So they might have a partial effect, or they might have an effect only under certain environmental conditions ...
CLN3 disease, juvenile<...CLN3 disease, juvenile<...
What is the cause? The gene called CLN3 lies on chromosome 16 and was discovered in 1995. CLN3 disease is inherited as an autosomal recessive disorder, which means that both chromosomes carry mutations in the CLN3 gene, and both parents are unaffected carriers. This gene codes for a transmembrane protein. The nerve cells cannot function as they should and symptoms develop.. ...
MGI - Inbred Strains: SDMGI - Inbred Strains: SD
Homozygotes and some heterozygotes develop urogenital abnormalities, and die shortly after birth. Heterozygotes have short tails and other abnormalities. Maint. by Glw. ...
Glossary of dental and benefit termsGlossary of dental and benefit terms
If you are covered by two programs (dual coverage), non-duplication of benefits is a term used to describe one of the ways the secondary carrier may calculate its portion of the payment. The secondary carrier calculates what it would have paid if it were the primary plan, and subtracts what the other plan paid. For example, if the primary carrier paid 80 percent, and the secondary carrier normally covers 80 percent as well, the secondary carrier would not make any additional payment. If the primary carrier paid 50 percent, however, the secondary carrier would pay up to 30 percent. ...
In a population with two alleles, B and ... -Weinberg equilibrium?In a population with two alleles, B and ... -Weinberg equilibrium?
In a population with two alleles, B and b, the frequency of b is 0.56. What would be the frequency of the heterozygotes, assuming Hardy-Weinberg equilibrium? ...
Biology-Online • View topic - Knockout miceBiology-Online • View topic - Knockout mice
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 ...
INT216253 - wiki-painINT216253 - wiki-pain
This effect might be tolerated in treatment of adult LQT-3 mutation carriers but it might offset the effects of flecainide on F1473C mutant channel activity in the mutation carrier due to his age and genetic background ...
MutationMutation
Compound heterozygosityCompound heterozygosity
Glycogen storage disease type IGlycogen storage disease type I
ΔF508ΔF508
EugenicsEugenics
Host-parasite coevolutionHost-parasite coevolution
PhenylketonuriaPhenylketonuria
Synalpheus regalisSynalpheus regalis
Medical genetics of JewsMedical genetics of Jews
Hartnup diseaseHartnup disease
MicrosatelliteMicrosatellite
Erythropoietic protoporphyriaErythropoietic protoporphyria
Bilateral frontoparietal polymicrogyriaBilateral frontoparietal polymicrogyria
Quantitative geneticsQuantitative genetics
Polymorphism (biology)Polymorphism (biology)
Polymorphism in LepidopteraPolymorphism in Lepidoptera
Leopard complexLeopard complex
Genetic carrierGenetic carrier
NSUN2NSUN2
PTS (gene)PTS (gene)
HeterosisHeterosis
Merle (dog coat)Merle (dog coat)
PolysomyPolysomy
Phenotypic traitPhenotypic trait
SMC3SMC3
Major histocompatibility complex and sexual selectionMajor histocompatibility complex and sexual selection
Robert W. AllardRobert W. Allard
Conditioned place preferenceConditioned place preference
ZygosityZygosity
Evolutionary medicineEvolutionary medicine
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceNamed GroupsHealth CareGeographicals
HeterozygoteHeterozygote DetectionHomozygoteAllelesGenotypeMutationPedigreePhenotypePolymorphism, GeneticGene FrequencyThalassemiaGenes, RecessiveHyperlipoproteinemia Type IHemoglobin A2Genetic VariationGenes, DominantDNA Mutational AnalysisGenes, LethalCrosses, GeneticBase SequenceHemoglobins, AbnormalHemochromatosisPolymerase Chain ReactionAtaxia TelangiectasiaGenetic Predisposition to DiseasePoint MutationHaplotypesHyperlipoproteinemia Type IIMutation, MissenseMolecular Sequence DataCystinuriaHypobetalipoproteinemiasTay-Sachs DiseaseExonsHemoglobin EJewsAdenine PhosphoribosyltransferaseGenetic LinkageMice, Mutant StrainsModels, GeneticFetal Hemoglobinalpha-ThalassemiaGenetic TestingPolymorphism, Single NucleotideHemoglobinopathiesChromosome MappingInbreedingGenetics, PopulationShrewsMice, KnockoutSandhoff DiseasePolymorphism, Restriction Fragment Lengthbeta-ThalassemiaGlucosephosphate Dehydrogenase DeficiencyDNAGenetic MarkersAmino Acid Metabolism, Inborn ErrorsPhenylketonuriasMicrosatellite RepeatsGlobinsFrameshift MutationSelection, GeneticLipid Metabolism, Inborn ErrorsCase-Control StudiesMetabolism, Inborn ErrorsCodon, NonsenseFabry DiseaseHypolipoproteinemiasConsanguinityHybrid VigorHexosaminidase AGene DeletionHomocystinuriaMice, Inbred C57BLLipidosesLecithin Acyltransferase DeficiencyCystic FibrosisApolipoproteins BCrossing Over, GeneticElectrophoresis, Starch GelLesch-Nyhan SyndromeDNA PrimersLipoprotein LipaseEthylnitrosoureaApolipoprotein B-100GenesSequence Analysis, DNAHaploidyalpha 1-Antitrypsin DeficiencyAlbinismChromosome InversionHemoglobin, SickleSequence Deletionbeta-N-AcetylhexosaminidasesFibroblastsHyperlipoproteinemias2-AminopurineAmino Acid SequenceLinkage DisequilibriumAsian Continental Ancestry GroupPolymorphism, Single-Stranded ConformationalFactor VAmino Acid SubstitutionHair ColorHemizygoteChromosomesDiploidyPurine-Pyrimidine Metabolism, Inborn ErrorsGlucosephosphate DehydrogenaseX ChromosomeXanthomatosisFounder EffectFamilial Mediterranean FeverHairIron OverloadRecombination, GeneticDrosophila melanogasterGene DosageItalyDwarfismErythrocytesIntronsTangier DiseaseSex ChromosomesSyndromeMembrane ProteinsGene TargetingCystinosisPenetranceHLA AntigensFamily HealthAdrenal Hyperplasia, CongenitalSex Chromosome AberrationsChromosome DeletionHyperargininemiaPrenatal DiagnosisFamily LeaveElectroretinographyMucopolysaccharidosis IICystic Fibrosis Transmembrane Conductance Regulatoralpha-GalactosidaseRNA, MessengerHLA-DRB3 Chainsalpha 1-AntitrypsinOrnithine Carbamoyltransferase Deficiency DiseaseInfant, NewbornRisk FactorsCodonFerritinsReceptors, LDLLeukocytesGenotyping TechniquesSickle Cell TraitEye ProteinsGenetic Complementation TestPregnancyGlycogen Storage Disease Type VEpistasis, GeneticEye AbnormalitiesAge of OnsetMice, TransgenicApolipoprotein A-IEmbryo LossBlotting, SouthernMice, Inbred StrainsHeteroduplex AnalysisLipoproteinsGaucher DiseaseIduronate SulfataseAnemia, Sickle CellHybridization, GeneticIronCzech RepublicCholesterolCells, CulturedMice, Neurologic MutantsSitosterolsGenetic Association StudiesFetal DeathGene Expression Regulation, DevelopmentalBlood Protein ElectrophoresisXeroderma PigmentosumLymphocytesAfrican Continental Ancestry GroupHistocompatibility Antigens Class ISweatIsoenzymesApolipoproteins ERetinitis PigmentosaCholesterol, HDLHexosaminidasesApolipoproteins ANeural Tube DefectsTyrosinemiasAnemia, Hemolytic, Congenital NonspherocyticRetinal DegenerationHemoglobin CGenetic HeterogeneityGenetic LoadReference ValuesEmbryo, Mammalian
Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancerMolecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer
Fatty acid synthesis is essential in embryonic development: Fatty acid synthase null mutants and most of the heterozygotes die...Fatty acid synthesis is essential in embryonic development: Fatty acid synthase null mutants and most of the heterozygotes die...
Heterozygote Advantage - Agricultural Significance, Hypotheses Of Heterozygote Advantage, Heterozygote Superiority In Humans -...Heterozygote Advantage - Agricultural Significance, Hypotheses Of Heterozygote Advantage, Heterozygote Superiority In Humans -...
Lexicon of Evolutionary GeneticsLexicon of Evolutionary Genetics
Changing of N-linked glycosylation in β1,4-GalT1 site-specific mutant mouse | EUROCARB 2019Changing of N-linked glycosylation in β1,4-GalT1 site-specific mutant mouse | EUROCARB 2019
Heterozygote advantage - WikipediaHeterozygote advantage - Wikipedia
Manifesting heterozygote | pathology | Britannica.comManifesting heterozygote | pathology | Britannica.com
Manifesting heterozygote | Definition of Manifesting heterozygote at Dictionary.comManifesting heterozygote | Definition of Manifesting heterozygote at Dictionary.com
Heterozygotes | Define Heterozygotes at Dictionary.comHeterozygotes | Define Heterozygotes at Dictionary.com
Heterozygote advantage - WikipediaHeterozygote advantage - Wikipedia
Sperm studies in heterozygote inv... preview & related info | MendeleySperm studies in heterozygote inv... preview & related info | Mendeley
THE EFFECTS OF INBREEDING AT LOCI WITH HETEROZYGOTE ADVANTAGE | GeneticsTHE EFFECTS OF INBREEDING AT LOCI WITH HETEROZYGOTE ADVANTAGE | Genetics
What is the evidence for heterozygote advantage selection?What is the evidence for heterozygote advantage selection?
what is the level of gene expression in a homozygote and heterozygote?what is the level of gene expression in a homozygote and heterozygote?
Re: what is the level of gene expression in a homozygote and heterozygote?Re: what is the level of gene expression in a homozygote and heterozygote?
Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography |...Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography |...
HLA and HIV-1: Heterozygote Advantage and B*35-Cw*04 Disadvantage | ScienceHLA and HIV-1: Heterozygote Advantage and B*35-Cw*04 Disadvantage | Science
HLA and HIV-1: Heterozygote Advantage and B*35-Cw*04 Disadvantage | ScienceHLA and HIV-1: Heterozygote Advantage and B*35-Cw*04 Disadvantage | Science
Phenylbutyrate/Genistein Duotherapy in Delta F508-Heterozygotes (for Cystic Fibrosis) - Full Text View - ClinicalTrials.govPhenylbutyrate/Genistein Duotherapy in Delta F508-Heterozygotes (for Cystic Fibrosis) - Full Text View - ClinicalTrials.gov
CROSSING OVER IN HETEROZYGOTES CARRYING DIFFERENT MUTABLE ALLELES AT THE A1 LOCUS IN MAIZE | GeneticsCROSSING OVER IN HETEROZYGOTES CARRYING DIFFERENT MUTABLE ALLELES AT THE A1 LOCUS IN MAIZE | Genetics
Mutants with heterozygote disadvantage can prevent spread of transgen... ( This release is available in A HREF ...)Mutants with heterozygote disadvantage can prevent spread of transgen... ( This release is available in A HREF ...)
Transmission of Z Allele from Heterozygotes for Alpha-1-Antitrypsin Deficiency - Reply | RTITransmission of Z Allele from Heterozygotes for Alpha-1-Antitrypsin Deficiency - Reply | RTI
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients | JEMBoth XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients | JEM
Impact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes. | Sigma-AldrichImpact of iron deficiency on hemoglobin A2% in obligate β-thalassemia heterozygotes. | Sigma-Aldrich
PLOS Genetics: A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote DogsPLOS Genetics: A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs
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SERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA CohortSERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA Cohort
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The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia | HaematologicaThe heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia | Haematologica
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A Manifesting Female Heterozygote in X-linked Retinoschisis: Clinical and Genetic Study | IOVS | ARVO JournalsA Manifesting Female Heterozygote in X-linked Retinoschisis: Clinical and Genetic Study | IOVS | ARVO Journals
Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes | Disease...Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes | Disease...
AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceNamed GroupsHealth CareGeographicals
HeterozygoteHeterozygote DetectionHomozygoteAllelesGenotypeMutationPedigreePhenotypePolymorphism, GeneticGene FrequencyThalassemiaGenes, RecessiveHyperlipoproteinemia Type IHemoglobin A2Genetic VariationGenes, DominantDNA Mutational AnalysisGenes, LethalCrosses, GeneticBase SequenceHemoglobins, AbnormalHemochromatosisPolymerase Chain ReactionAtaxia TelangiectasiaGenetic Predisposition to DiseasePoint MutationHaplotypesHyperlipoproteinemia Type IIMutation, MissenseMolecular Sequence DataCystinuriaHypobetalipoproteinemiasTay-Sachs DiseaseExonsHemoglobin EJewsAdenine PhosphoribosyltransferaseGenetic LinkageMice, Mutant StrainsModels, GeneticFetal Hemoglobinalpha-ThalassemiaGenetic TestingPolymorphism, Single NucleotideHemoglobinopathiesChromosome MappingInbreedingGenetics, PopulationShrewsMice, KnockoutSandhoff DiseasePolymorphism, Restriction Fragment Lengthbeta-ThalassemiaGlucosephosphate Dehydrogenase DeficiencyDNAGenetic MarkersAmino Acid Metabolism, Inborn ErrorsPhenylketonuriasMicrosatellite RepeatsGlobinsFrameshift MutationSelection, GeneticLipid Metabolism, Inborn ErrorsCase-Control StudiesMetabolism, Inborn ErrorsCodon, NonsenseFabry DiseaseHypolipoproteinemiasConsanguinityHybrid VigorHexosaminidase AGene DeletionHomocystinuriaMice, Inbred C57BLLipidosesLecithin Acyltransferase DeficiencyCystic FibrosisApolipoproteins BCrossing Over, GeneticElectrophoresis, Starch GelLesch-Nyhan SyndromeDNA PrimersLipoprotein LipaseEthylnitrosoureaApolipoprotein B-100GenesSequence Analysis, DNAHaploidyalpha 1-Antitrypsin DeficiencyAlbinismChromosome InversionHemoglobin, SickleSequence Deletionbeta-N-AcetylhexosaminidasesFibroblastsHyperlipoproteinemias2-AminopurineAmino Acid SequenceLinkage DisequilibriumAsian Continental Ancestry GroupPolymorphism, Single-Stranded ConformationalFactor VAmino Acid SubstitutionHair ColorHemizygoteChromosomesDiploidyPurine-Pyrimidine Metabolism, Inborn ErrorsGlucosephosphate DehydrogenaseX ChromosomeXanthomatosisFounder EffectFamilial Mediterranean FeverHairIron OverloadRecombination, GeneticDrosophila melanogasterGene DosageItalyDwarfismErythrocytesIntronsTangier DiseaseSex ChromosomesSyndromeMembrane ProteinsGene TargetingCystinosisPenetranceHLA AntigensFamily HealthAdrenal Hyperplasia, CongenitalSex Chromosome AberrationsChromosome DeletionHyperargininemiaPrenatal DiagnosisFamily LeaveElectroretinographyMucopolysaccharidosis IICystic Fibrosis Transmembrane Conductance Regulatoralpha-GalactosidaseRNA, MessengerHLA-DRB3 Chainsalpha 1-AntitrypsinOrnithine Carbamoyltransferase Deficiency DiseaseInfant, NewbornRisk FactorsCodonFerritinsReceptors, LDLLeukocytesGenotyping TechniquesSickle Cell TraitEye ProteinsGenetic Complementation TestPregnancyGlycogen Storage Disease Type VEpistasis, GeneticEye AbnormalitiesAge of OnsetMice, TransgenicApolipoprotein A-IEmbryo LossBlotting, SouthernMice, Inbred StrainsHeteroduplex AnalysisLipoproteinsGaucher DiseaseIduronate SulfataseAnemia, Sickle CellHybridization, GeneticIronCzech RepublicCholesterolCells, CulturedMice, Neurologic MutantsSitosterolsGenetic Association StudiesFetal DeathGene Expression Regulation, DevelopmentalBlood Protein ElectrophoresisXeroderma PigmentosumLymphocytesAfrican Continental Ancestry GroupHistocompatibility Antigens Class ISweatIsoenzymesApolipoproteins ERetinitis PigmentosaCholesterol, HDLHexosaminidasesApolipoproteins ANeural Tube DefectsTyrosinemiasAnemia, Hemolytic, Congenital NonspherocyticRetinal DegenerationHemoglobin CGenetic HeterogeneityGenetic LoadReference ValuesEmbryo, Mammalian
HypothesisGeneOccurMiceMutationMutationsAlleleMaintained by heterozygote advantageHeterozygousGeneticsAllelesHomozygote and heterozygoteNatural selection and heterozygote advantageDisadvantagePolymorphismCase of heterozygote advantageAtaxia-telangiectasia heterozygotesPolymorphismsDetection of CAHHomozygotes and heterozygotesManifestingCarriersLociOverdominanceHomozygousChromosomesHeterozygosityDeficiencyDefinitionObligateHigh frequenciesFrequenciesManifestationsDominanceHeterogeneityHeterosisExamples from the WebClinicallyPopulationsHumansVersusFertilityMalariaDeficienciesMeioticDominantsSerumDescriptor
Hypothesis1
Gene2
Occur1
Mice2
Mutation13
Mutations12
Allele12
Maintained by heterozygote advantage3
Heterozygous9
Genetics2
  • Previous research, comparing measures of dominance, overdominance and epistasis (mostly in plants), found that the majority of cases of heterozygote advantage were due to complementation (or dominance), the masking of deleterious recessive alleles by wild-type alleles, as discussed in the articles Heterosis and Complementation (genetics), but there were also findings of overdominance, especially in rice. (wikipedia.org)
  • Specifically, those alleles , one found on each homologue , with Heterozygotes, are not identical to each other, either genotypically or, as is the case in practice with Mendelian genetics , phenotypically . (biologyaspoetry.com)
Alleles6
Homozygote and heterozygote6
Natural selection and heterozygote advantage2
Disadvantage9
Polymorphism5
  • Polymorphism can be maintained by selection favoring the heterozygote, and this mechanism is used to explain the occurrence of some kinds of genetic variability. (wikipedia.org)
  • In a classic study, Kalmus demonstrated how polymorphism can persist in a population through heterozygote advantage. (wikipedia.org)
  • For heterozygote advantage to be consequential i.e, to be capable of effectively stabilizing a balanced polymorphism against the stochastic fluctuations arising from random genetic drift, the fitness advantages of a heterozygote over its two homozygote have to be at least of order 1/ N 10. (fungionline.org.uk)
  • Such maladaptive behavior argues forcefully against mate choice based on "good genes," and its persistence is best explained by heterozygote advantage maintaining the polymorphism coupled with nongenetic mate choice based on sexual imprinting. (uni-bielefeld.de)
  • We found that polymorphism of rs1537514 showed the most significant effect: heterozygote associated with better clinical benefit (P = 0.002) and decreased risk of grade 3 or 4 gastrointestinal toxicity (P = 0.027), while the mutant homozygote associated with increased risk of severe gastrointestinal toxicity (P = 0.031) and thrombocytopenia (P = 009). (cdc.gov)
Case of heterozygote advantage3
Ataxia-telangiectasia heterozygotes1
Polymorphisms2
  • The heterozygotes of exon polymorphisms (rs1801131, rs1801133) also yielded better clinical benefit (P = 0.030 for rs1801131) and decreased risk of severe gastrointestinal toxicity (P = 0.004 for rs1801131) or thrombocytopenia (P = 0.016 for 1801133). (cdc.gov)
  • However, overall survival (OS) and progression-free survival (PFS) did not differ for the MTHFR polymorphisms, except for heterozygote of rs1537514 showing significant effects with better PFS (P = 0.022). (cdc.gov)
Detection of CAH1
Homozygotes and heterozygotes2
Manifesting2
Carriers10
  • Immature hepatic function is one explanation for neonatal transient galactosuria, but heterozygotes or the carriers of galactose degradation enzyme deficiencies were also suspected in some of the newborns, judging from the comparisons of urinary galactose and 4HPLA excretion between neonates and patients with galactosemia. (nii.ac.jp)
  • However, these heterozygote individuals, known as carriers of the sickle cell trait , may suffer problems from time to time. (wikipedia.org)
  • For this purpose, the levels of remnant cholesterol and LDL-c were determined in APOC3 LOF heterozygotes versus non-carriers, by means of a meta-analysis of 8 study cohorts including 137,895 individuals. (pace-cme.org)
  • Moreover, LDL-c levels of APOC3 LOF heterozygotes were compared with those of non-carriers in 75,725 individuals in the two prospective Danish general population cohorts (Copenhagen City Heart Study and Copenhagen General Population Study), and it was assessed whether lipid-lowering therapy masked the associations of LDL cholesterol with IVD. (pace-cme.org)
  • APOC3 LOF heterozygotes had 4% (95%CI: 1%-6%) lower levels of LDL-c compared with non-carriers in a fixed effects model and 5% (95%CI: 1%-8%) lower levels of LDL-c in a random effects model. (pace-cme.org)
  • In the general population, remnant cholesterol was 44% (0.3 mmol/L) lower (P=1×10−51), and LDL-c was 3% (0.1 mmol/L) lower (P=0.06) in APO3 LOF heterozygotes versus non-carriers overall, regardless of lipid-lowering therapy. (pace-cme.org)
  • After correcting for lipid-lowering therapy, LOF heterozygotes in the general population had 43% (0.3 mmol/L) lower levels of remnant cholesterol (P=5×10−49) and 4% (0.1 mmol/L) lower levels of LDL-c (P=0.008) compared with non-carriers. (pace-cme.org)
  • When excluding participants on lipid-lowering therapy at the time of lipid assessment, remnant cholesterol was 44% (0.3 mmol/L) lower (P=2×10−49), and LDL-c was 3% (0.1 mmol/L) lower (P=0.02) in LOF heterozygotes compared with non-carriers. (pace-cme.org)
  • The mediation analysis showed that the lower levels of remnant cholesterol in LOF heterozygotes versus non-carriers mediated 37% of the lower IVD risk (P value for the indirect effect, P=6×10−37) and 54% of the lower IHD risk (P value for the indirect effect, P=1×10−37), whereas the 4% lower levels of LDL-c mediated only 1% and 2% of the lower risks. (pace-cme.org)
  • The lower IVD risk in APOC3 LOF heterozygotes compared with non-carriers is largely due to the significantly lower levels of remnant cholesterol and not due to lower levels of LDL-c, and this observation was not affected by lipid-lowering therapy. (pace-cme.org)
Loci1
Overdominance1
Homozygous1
Chromosomes4
  • Summary(#br)In Pisum sativum tertiary trisomics and trisomic interchange heterozygotes have been derived from Hammarlund's K -line interchange heterozygote, which has a meiotic association of four chromosomes. (cnki.net)
  • The spermatocytes of heterozygotes for dependent Rb chromosomes formed a quadrivalent where four chromosomes are synapsed together and bound to the nuclear envelope through four telomeres. (biomedcentral.com)
  • Two distinct types of Rb heterozygotes have been recognized: (1) complex heterozygotes which carry two or more metacentric chromosomes with common chromosome arms that consequently form rings or chains of more than three chromosomes at meiosis I and (2) simple or multiple simple heterozygotes which carry one or more metacentric chromosomes and homologous telocentrics that form trivalents during meiosis I [ 3 , 4 ]. (biomedcentral.com)
  • In this study we were interested in the synaptic configuration of chromosomes involved in the complex heterozygote 2n = 38 that carry two metacentric Rb chromosomes that share two chromosome arms (Rbs: 11.16 and 16.17), as a way of understanding the meiotic origin of reduced fertility in these hybrids. (biomedcentral.com)
Heterozygosity1
  • We show that prolonged mTert heterozygosity (for greater than ten generations) did not elicit disease, even upon heterozygote interbreeding, and that telomeres reset to wild-type lengths. (biologists.org)
Deficiency2
Definition3
Obligate1
High frequencies1
Frequencies1
Manifestations1
Dominance1
  • Being Well-Born Michael F. In this character, then, dominance almost always fails to show itself in the heterozygote and often fails in pure dominants. (fungionline.org.uk)
Heterogeneity1
Heterosis1
Examples from the Web1
Clinically1
Populations3
Humans2
Versus1
Fertility1
Malaria1
  • This resistance is favored by natural selection in tropical regions where malaria (a common and deadly sickness caused by the protozoan parasite Plasmodium falciparum ) is present and so the heterozygote has an evolutionary edge. (bionity.com)
Deficiencies1
Meiotic1
  • Surprisingly, the analysis of meiotic pairing and synapsis for three lacO reporter couplets in FM7/X heterozygotes revealed they are paired and synapsed during zygotene/pachytene in 70%-80% of oocytes. (ku.edu)
Dominants1
Serum2
  • In twenty healthy Icelandic heterozygotes for WD and their age- and gender-matched controls, copper concentration in plasma, ceruloplasmin (CP) concentration, CP oxidative activity and CP-specific oxidative activity in serum and superoxide dismutase (SOD1) activity in erythrocytes were determined. (dovepress.com)
  • During pregnancy an intermediate isoenzyme (HEX I) increases in activity in serum and obscures the heterozygote status. (biomedsearch.com)
Descriptor1
  • Heterozygote" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
Manifesting heterozygote | Definition of Manifesting heterozygote at Dictionary.com
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Available information on the free release of genetically modified insects into the wild is highly restricted | Max-Planck...
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KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia | Blood...
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Identification and fine mapping of Bph33, a new brown planthopper resistance gene in rice ( Oryza sativa L.) | SpringerLink
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