HeterozygoteGenes, RecessiveHeterozygote DetectionHomozygotePedigreeMutationConsanguinityAllelesPhenotypeGenotypeGenes, DominantDNA Mutational AnalysisGenetic LinkagePolymorphism, GeneticChromosome MappingGene FrequencyGenes, LethalMutation, MissenseMolecular Sequence DataCrosses, GeneticBase SequenceHaplotypesSyndromeExonsGenetic Predisposition to DiseasePolycystic Kidney, Autosomal RecessivePoint MutationPolymerase Chain ReactionCodon, NonsenseRetinitis PigmentosaGenetic VariationThalassemiaFrameshift MutationGenetic MarkersModels, GeneticAtaxia TelangiectasiaGenetic TestingAbnormalities, MultipleMice, Mutant StrainsJewsHyperlipoproteinemia Type IPolymorphism, Single NucleotideLod ScoreHemoglobin A2Microsatellite RepeatsHemochromatosisCystinuriaAmino Acid SequenceDeafnessHyperlipoproteinemia Type IIFounder EffectMetabolism, Inborn ErrorsHemoglobins, AbnormalX ChromosomeInbreedingTay-Sachs DiseaseAmino Acid Metabolism, Inborn ErrorsIchthyosisDNAFamily HealthDwarfismAdenine PhosphoribosyltransferaseSequence Analysis, DNAGenetic HeterogeneityPolymorphism, Restriction Fragment LengthGenetic Complementation TestHypobetalipoproteinemiasPolymorphism, Single-Stranded ConformationalHemoglobin ESequence DeletionEthylnitrosoureaMice, KnockoutIntellectual DisabilityGenetics, PopulationGene DeletionMicrocephalyCase-Control StudiesDNA PrimersHearing Loss, SensorineuralEpidermolysis Bullosa DystrophicaMembrane ProteinsLipid Metabolism, Inborn ErrorsEye ProteinsOsteochondrodysplasiasElectroretinographyHypotrichosisHair ColorFetal HemoglobinGenesAge of OnsetAsian Continental Ancestry GroupInfant, Newbornalpha-ThalassemiaPhenylketonuriasDrosophila melanogasterAmino Acid SubstitutionFibroblastsMice, Inbred C57BLSelection, GeneticGenetic Diseases, Inborn