2001
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms
1993
Mutational analysis of candidate genes in psychiatric disorders
Gejman P, Gelernter J. Mutational analysis of candidate genes in psychiatric disorders. American Journal Of Medical Genetics 1993, 48: 184-191. PMID: 8135301, DOI: 10.1002/ajmg.1320480404.Peer-Reviewed Original ResearchConceptsMutational analysisDNA samplesGradient gel electrophoresis (DGGE) techniqueDNA sequencesNucleotide sequenceSequence variationCandidate genesSequence variantsNew sequence variationsChemical cleavageGel electrophoresis techniqueExistence of variationGenetic hypothesisGenesMolecular screeningMutation screeningAffected individualsSequenceElectrophoresis techniqueMutationsCleavageVariationVariants