Evolution of haplotypes at the DRD2 locus
Journal Article
·
· American Journal of Human Genetics
OSTI ID:186216
- Yale Univ. School of Medicine, New Haven, CT (United States); and others
We present here the first evolutionary perspective on haplotypes at DRD2, the locus for the dopamine D{sub 2} receptor. The dopamine D{sub 2} receptor plays a critical role in the functioning of many neural circuits in the human brain. If functionally relevant variation at the DRD2 locus exists, understanding the evolution of haplotypes on the basis of polymorphic sites encompassing the gene should provide a powerful framework for identifying that variation. Three DRD2 polymorphisms (TaqI {open_quotes}A{close_quotes} and {open_quotes}B{close_quotes} RFLPs and the (CA){sub n} short tandem repeat polymorphism) encompassing the coding sequences have been studied in 15 populations; these markers are polymorphic in all the populations studied, and they display strong and significant linkage disequilibria with each other. The common haplotypes for the two TaqI RFLPs are separately derived from the ancestral haplotype but predate the spread of modern humans around the world. The knowledge of how the various haplotypes have evolved, the allele frequencies of the haplotypes in human populations, and the physical relationships of the polymorphisms to each other and to the functional parts of the gene should now allow proper design and interpretation of association studies. 48 refs., 2 figs., 6 tabs.
- OSTI ID:
- 186216
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 57; ISSN 0002-9297; ISSN AJHGAG
- Country of Publication:
- United States
- Language:
- English
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