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 measures
1998
Genetic Structure of the Ancestral Population of Modern Humans
Ziętkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd K, Modiano D, Scozzari R, Stoneking M, Tishkoff S, Batzer M, Labuda D. Genetic Structure of the Ancestral Population of Modern Humans. Journal Of Molecular Evolution 1998, 47: 146-155. PMID: 9694663, DOI: 10.1007/pl00006371.Peer-Reviewed Original ResearchConceptsNucleotide diversityAncestral populationsNeutral DNA polymorphismsOverall nucleotide diversityPopulation-specific variantsOld polymorphismsGenetic structureAncestral stateHuman divergenceOrthologous sitesGenetic variabilityDNA polymorphismsNew allelesHuman variantsPolymorphic sitesNon-AfricansWorldwide sampleGreat apesEffective sizeModern humansHuman groupsDiversityPolymorphismDivergenceNew Guinea