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Hum Genet. 2014 Apr;133(4):431-3. doi: 10.1007/s00439-013-1386-0. Epub 2013 Oct 27.

An historical perspective on "The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus".

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Department of Genetics, Yale University School of Medicine, 333 Cedar Street, PO Box 208005, New Haven, CT, 06520-8005, USA,


Human population genetics is a completely different science today compared to two decades ago, at least at the empiric level. Our paper [Chang (Hum Genet 98:91-101, 1996a)] demonstrated that three different alleles were common when one considered many populations although other low frequency alleles occurred. Because previous work had been largely done on European subjects, our findings involved 36 distinct populations and showed that East Asian populations had nearly lost the 7-repeat allele, and that Native American populations had the highest frequencies of that allele globally, was a significant early empiric demonstration of the potential magnitude of population variation at important genes. There are thousands of loci tested on many of the same populations and the gene frequency pattern seen for the DRD4 7-repeat allele is seen at other loci, arguing that this pattern commonly reflects the pattern of divergence of populations and accumulated random genetic drift.

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