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Distribution of the 3` VNTR polymorphism in the human dopamine transporter gene in world populations

Lookup NU author(s): Sally Howlett, Dr Janet McComb, Dr Surinder Papiha


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A polymorphism with a variable number of tandem repeals (VNTR) found in the 3` untranslated region of the human dopamine transporter gene (DATI) was scored in unrelated individuals drawn from 10 geographically widely dispersed populations in order to assess this marker`s usefulness in human population genetics. The populations that were analyzed in this study included 4 indigenous groups of Siberia, natives of North and South America, as well as Caucasian and Oceanic groups, most of which represented small-scale societies, A total of 5 DATI alleles were seen overall, but only in one Siberian population, the Altai-Kizhi, were all 5 present, and in the Native Americans of Colombia the locus was monomorphic. The most common allele, DATI*10, ranged in frequency from 52% in Greeks to 100% in South Americans. The high frequency of the DATI*10 allele (similar to 90%) among Mongoloid groups of north and east Asia distinguishes them from most Caucasian groups. The presence of the rare DAT1*7 allele in relatively high frequency (similar to 5%) among all Siberian groups suggests a close affinity with north Asian groups, especially Mongolians. The presence of the even rarer DATI *13 allele in one Siberian population, the Altai-Kizhi, reflects this group`s long historical contact with Mongolians. The results demonstrated that the DATI VNTR polymorphism is useful in investigating population relationships, and that rare alleles at this locus may be particularly valuable in understanding the extent of genetic affinity between neighboring groups and in situations where admixture is suspected. However, because of both the association and linkage of this VNTR locus with attention-deficit hyperactivity disorder (ADHD) in children, and its highly restricted polymorphism (usually 3 alleles) in most human groups, the possibility, of selection constraints on the DAT1 gene cannot be ignored.

Publication metadata

Author(s): Mitchell RJ, Howlett S, Earl L, White NG, McComb J, Schanfield MS, Briceno I, Papiha SS, Osipova L, Livshits G, Leonard WR, Crawford MH

Publication type: Article

Publication status: Published

Journal: Human Biology

Year: 2000

Volume: 72

Issue: 2

Pages: 295-304

ISSN (print): 0018-7143

ISSN (electronic): 1534-6617

Publisher: Wayne State University Press