HomozygoteHeterozygoteHeterozygote DetectionGenotypeAllelesPolymorphism, GeneticGene FrequencyMutationPhenotypeGenetic Predisposition to DiseaseHemochromatosisPolymorphism, Single NucleotidePedigreeGenetic VariationHaplotypesGenes, LethalGenes, RecessiveMice, Mutant StrainsCase-Control StudiesHyperlipoproteinemia Type IIPolymerase Chain ReactionCrosses, GeneticPoint MutationBase SequenceThalassemiaPolymorphism, Restriction Fragment LengthGenes, DominantDNA Mutational AnalysisAlbinismAtaxia TelangiectasiaMolecular Sequence DataApolipoprotein E2Mutation, MissenseGenetic TestingExonsHemoglobins, AbnormalMethylenetetrahydrofolate Reductase (NADPH2)Catechol O-MethyltransferaseHemoglobin EGenetic LinkageGenetic MarkersJewsModels, GeneticAsian Continental Ancestry GroupGenetic Association StudiesChromosome MappingRisk FactorsLinkage DisequilibriumHyperlipoproteinemia Type IDNAGenetics, PopulationAmino Acid Substitutionalpha-ThalassemiaEuropean Continental Ancestry GroupEthylnitrosoureaXanthomatosisalpha 1-Antitrypsin DeficiencyHair ColorFetal HemoglobinHistocompatibility Antigens Class IFerritinsMembrane ProteinsHypobetalipoproteinemiasGaucher DiseaseDNA PrimersInbreedingHemoglobinopathiesApolipoproteins EHyperlipoproteinemia Type IIIMice, KnockoutHypolipoproteinemiasShrewsGenesGene DeletionApolipoproteins ASelection, GeneticMetabolism, Inborn ErrorsCystic FibrosisApolipoproteins BLipid Metabolism, Inborn ErrorsMice, Inbred C57BLGlobinsMicrosatellite RepeatsHemoglobin A2Oxidoreductases Acting on CH-NH Group DonorsElectrophoresis, Starch GelDrosophila melanogasterPromoter Regions, GeneticReference ValuesCohort StudiesCodonLecithin Acyltransferase DeficiencyFrameshift MutationSequence Analysis, DNAOdds Ratiobeta-ThalassemiaFamilial Mediterranean FeverEmbryo LossPolycythemiaConsanguinity