2004
The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus
Wang E, Ding Y, Flodman P, Kidd J, Kidd K, Grady D, Ryder O, Spence M, Swanson J, Moyzis R. The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus. American Journal Of Human Genetics 2004, 74: 931-944. PMID: 15077199, PMCID: PMC1181986, DOI: 10.1086/420854.Peer-Reviewed Original ResearchConceptsLittle linkage disequilibriumHuman dopamine receptor D4 genePolymorphic sitesDNA sequence organizationMost polymorphic sitesPatterns of recombinationObserved LD patternRare mutational eventsDRD4 locusGenetic architectureHaplotype diversityPositive selectionMore polymorphismsSequence organizationGene locusTandem repeatsMutational eventsLD patternsLinkage disequilibriumDopamine receptor D4 geneLociPhysiological differencesSame alleleReceptor variantsAlleles
1995
An international two–stage genome–wide search for schizophrenia susceptibility genes
Moises H, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, Blackwood D, Liu X, Sjögren B, Aschauer H, Hwu H, Jang K, Livesley W, Kennedy J, Zoega T, Ivarsson O, Bui M, Yu M, Havsteen B, Commenges D, Weissenbach J, Schwinger E, Gottesman I, Pakstis A, Wetterberg L, Kidd K, Helgason T. An international two–stage genome–wide search for schizophrenia susceptibility genes. Nature Genetics 1995, 11: 321-324. PMID: 7581457, DOI: 10.1038/ng1195-321.Peer-Reviewed Original ResearchConceptsGenome-wide searchChromosome 6pIDDM susceptibility genesModel-free linkage analysisSchizophrenia susceptibility genesFine mappingOligogenic transmissionAssociation studiesLinkage analysisGeographical isolatesLinkage findingsSusceptibility genesGenesLocus heterogeneityLarge pedigreeComplex disorderSecond International Collaborative StudyComplex modesHLA regionMultifactorial diseaseLinkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Baldwin C, Weiss S, Farrer L, De Stefano A, Adair R, Franklyn B, Kidd K, Korostishevsky M, Bonné-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human Molecular Genetics 1995, 4: 1637-1642. PMID: 8541853, DOI: 10.1093/hmg/4.9.1637.Peer-Reviewed Original ResearchMeSH KeywordsCell LineChromosomes, Human, Pair 7DeafnessEthnicityFemaleGenes, RecessiveGenetic HeterogeneityGenetic LinkageHumansMaleMiddle EastPedigreeConceptsHuman chromosome 7q31Genetic linkage analysisNon-syndromic deafnessChromosomal locationGene locationNon-syndromic formsRecessive non-syndromic deafnessLinkage analysisChromosome 7q31Nonallelic mutationsGenetic isolateLarge familyLOD scoreGenetic heterogeneityGenetic causeRecessive deafnessGenesRecognizable phenotypeFirst evidenceDruze familyFamilyAffected individualsSpecific patternsMutationsPhenotype