title: Distribution of the 3' VNTR polymorphism in the human dopamine transporter gene in world populations.
abstract: A polymorphism with a variable number of tandem repeats (VNTR) found in the 3' untranslated region of the human dopamine transporter gene (DAT1) 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 DAT1 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, DAT1*10, ranged in frequency from 52% in Greeks to 100% in South Americans. The high frequency of the DAT1*10 allele (approximately 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 (approximately 5%) among all Siberian groups suggests a close affinity with north Asian groups, especially Mongolians. The presence of the even rarer DAT1*13 allele in one Siberian population, the Altai-Kizhi, reflects this group's long historical contact with Mongolians. The results demonstrated that the DAT1 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.
authors.affiliation: Department of Genetics & Human Variation, La Trobe University, Bundoora, Victoria, Australia.
authors.forename: R J
authors.initials: RJ
authors.lastname: Mitchell
authors.forename: S
authors.initials: S
authors.lastname: Howlett
authors.forename: L
authors.initials: L
authors.lastname: Earl
authors.forename: N G
authors.initials: NG
authors.lastname: White
authors.forename: J
authors.initials: J
authors.lastname: McComb
authors.forename: M S
authors.initials: MS
authors.lastname: Schanfield
authors.forename: I
authors.initials: I
authors.lastname: Briceno
authors.forename: S S
authors.initials: SS
authors.lastname: Papiha
authors.forename: L
authors.initials: L
authors.lastname: Osipova
authors.forename: G
authors.initials: G
authors.lastname: Livshits
authors.forename: W R
authors.initials: WR
authors.lastname: Leonard
authors.forename: M H
authors.initials: MH
authors.lastname: Crawford
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D004247:DNA / Q000032:analysis; D050483:Dopamine Plasma Membrane Transport Proteins; D005060:Europe; D005828:Genetics, Population; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D010139:Pacific Islands; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011159:Population Surveillance; D014481:United States; D044465:White People / Q000235:genetics; D014944:World Health Organization; D000094862:Oceanians / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D004247:DNA; D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493214:SLC6A3 protein, human