HeterozygoteGenes, DominantHeterozygote DetectionHomozygoteMutationPedigreeAllelesGenotypePhenotypePolymorphism, GeneticGene FrequencyGenes, RecessiveMolecular Sequence DataDNA Mutational AnalysisGenetic LinkageThalassemiaMutation, MissenseCrosses, GeneticGenetic VariationPolymerase Chain ReactionGenes, LethalPoint MutationHaplotypesHyperlipoproteinemia Type IGenetic Predisposition to DiseaseHemoglobin A2ExonsChromosome MappingHemochromatosisHemoglobins, AbnormalHyperlipoproteinemia Type IIModels, GeneticAtaxia TelangiectasiaGenetic MarkersMice, Mutant StrainsHypobetalipoproteinemiasCystinuriaTay-Sachs DiseaseGenetic TestingJewsHemoglobin EPolymorphism, Single NucleotideDNAAdenine PhosphoribosyltransferaseMicrosatellite RepeatsPolymorphism, Restriction Fragment LengthSequence Analysis, DNAMice, KnockoutFrameshift MutationFetal HemoglobinDNA Primersalpha-ThalassemiaMice, Inbred C57BLRetinitis PigmentosaGenetics, PopulationInbreedingCodon, NonsenseAmino Acid SubstitutionSequence DeletionHemoglobinopathiesCase-Control StudiesGene DeletionSyndromebeta-ThalassemiaShrewsSandhoff DiseaseSelection, GeneticGlucosephosphate Dehydrogenase DeficiencyGlobinsConsanguinityAmino Acid Metabolism, Inborn ErrorsLod ScorePenetrancePhenylketonuriasRNA, MessengerCells, CulturedPolymorphism, Single-Stranded ConformationalMembrane ProteinsMetabolism, Inborn ErrorsFibroblastsDNA-Binding ProteinsFamily HealthCell LineGenesEye ProteinsMice, TransgenicLipid Metabolism, Inborn ErrorsDrosophila melanogasterHybrid VigorHypolipoproteinemiasFabry DiseaseGenetic HeterogeneityLipidosesX ChromosomeEthylnitrosoureaRecombination, GeneticAge of OnsetHaploidyTranscription FactorsCrossing Over, Genetic