2000
Worldwide Genetic Analysis of the CFTR Region
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd J, Pakstis A, Kidd K, Bertranpetit J. Worldwide Genetic Analysis of the CFTR Region. American Journal Of Human Genetics 2000, 68: 103-117. PMID: 11104661, PMCID: PMC1234903, DOI: 10.1086/316940.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) geneShort tandem repeat polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumHaplotype backgroundTransmembrane conductance regulator geneWorldwide population samplesModern human populationsHaplotype variationHigh heterozygosityCFTR regionOut of AfricaRegulator geneSevere genetic disorderGenetic analysisMutation rateDifferent haplotypesAncestral haplotypeAllele sizeOutcome of differencesSNP haplotypesLD analysisNon-AfricansHaplotypesLD measuresSequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence
Hoehe M, Köpke K, Wendel B, Rohde K, Flachmeier C, Kidd K, Berrettini W, Church G. Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence. Human Molecular Genetics 2000, 9: 2895-2908. PMID: 11092766, DOI: 10.1093/hmg/9.19.2895.Peer-Reviewed Original ResearchConceptsComplex genotype-phenotype relationshipsGenotype-phenotype relationshipsCandidate genesSequence variabilitySequence variantsGene sequence informationDNA sequence variationCandidate gene analysisSpecific sequence variantsPrime candidate geneCombination of variantsSequence comparisonSequence variationSequence informationHuman mu-opioid receptor geneDifferent haplotypesGene analysisGenesComplex diseasesReceptor geneOpioid receptor geneHaplotypesGene variationMultiple individualsModel system
1993
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene
Lichter J, Barr C, Kennedy J, Van Tol H, Kidd K, Livak K. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Human Molecular Genetics 1993, 2: 767-773. PMID: 8353495, DOI: 10.1093/hmg/2.6.767.Peer-Reviewed Original ResearchConceptsHuman dopamine receptor D4 geneAmino acid sequenceThird cytoplasmic loopNumber of repeatsPutative third cytoplasmic loopFunctional proteinsCytoplasmic loopAcid sequenceRepeat regionDifferent repeatsHypervariable segmentDifferent haplotypesRepeatsDopamine receptor D4 geneUnrelated chromosomesNovel polymorphismsD4 geneGenesProteinHuman dopamine D4 receptorPolymorphic variantsSequencePolymorphismChromosomesReceptors