1999
Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene
Mateu E, Calafell F, Bonné-Tamir B, Kidd J, Casals T, Kidd K, Bertranpetit J. Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene. Human Heredity 1999, 49: 15-20. PMID: 9858852, DOI: 10.1159/000022834.Peer-Reviewed Original ResearchConceptsCFTR geneIntron 1Allele frequenciesMolecular varianceGenetic varianceFirst intronDinucleotide CACA repeatsGenesCF mutationsHaplotypic analysisMutationsMajor geographical areasAfrican populationsUnknown mutationsAllele distributionPolymorphismCystic fibrosisIntronsChromosomesRepeatsGeographical regionsLociHeterozygosityPopulation
1998
Evolution of a D2 Dopamine Receptor Intron Within the Great Apes and Humans
Deinard A, Kidd K. Evolution of a D2 Dopamine Receptor Intron Within the Great Apes and Humans. Mitochondrial DNA Part A 1998, 8: 289-301. PMID: 10993600, DOI: 10.3109/10425179809034074.Peer-Reviewed Original ResearchConceptsDenaturing Gradient Gel ElectrophoresisGenetic variationComparative phylogenetic analysisDNA sequence variationSequence comparative analysisCross-species comparisonsGreat apesEvolutionary relationshipsGradient gel electrophoresisPhylogenetic analysisGeographical rangeSequence variationPygmy chimpanzeesCommon chimpanzeesDNA sequencingDirect DNA sequencingIntronsGel electrophoresisSpeciesChimpanzeesApesSequencingComparative analysisHumansVariation
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAlleles
1994
Detection of DNA sequence variation via deliberate heteroduplex formation from genomic DNAs amplified en masse in "population tubes".
Ruano G, Deinard A, Tishkoff S, Kidd K. Detection of DNA sequence variation via deliberate heteroduplex formation from genomic DNAs amplified en masse in "population tubes". Genome Research 1994, 3: 225-231. PMID: 8173512, DOI: 10.1101/gr.3.4.225.Peer-Reviewed Original ResearchConceptsDNA sequence variationSequence variationGenomic DNAGlucose-6-phosphate dehydrogenase geneX chromosome lociWide geographic distributionLarge-scale samplingLong intronsDehydrogenase geneAllelic variationHeteroduplex moleculesGeographic distributionAllelic variantsHeteroduplex formationChimpanzee samplesHuman populationGradient electrophoresisRare variantsDNAGradient gelsHeteroduplexesElectrophoresisIntronsGenesLoci