A genetic variety and MTHFR locus haplotypes structure in the Yakut population
Abstract
The architecture of linkage disequilibrium (LD) in human genome is now the subject of intensive studie. In the present work genetic differentiation and structure of LD in the methylenetetrahydrofolate reductase gene (MTHFR) was examined in population of Yakuts in comparison with the samples of Caucasians, Chineses and Japaneses from HapMap project. In the explored groups we examined haplotype, genotype and allele frequencies at 10 SNPs of MTHFR gene: rs2066470, rs17037397, rs4846052, rs1801133 (C677T), rs6541003, rs2066462, rs1801131 (A1298C), rs17375901, rs2274976 (G1793A) and rs1537516). Population-specific nature of structure of LD in MTHFR gene was demonstrated.
About the Authors
E. A. Trifonova
НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
M. G. Spiridonova
ГУ НИИ МГ СО РАМН
Russian Federation
Russian Federation
N. R. Maksimova
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
A. N. Nogovitsyna
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
V. A. Stepanov
ГУ НИИ СО РАМН
Russian Federation
Russian Federation
References
1. Трифонова Е.А., Спиридонова М.Г., Степанов В.А. Генетическое разнообразие и структура неравновесия по сцеплению в локусе метилентетрагидрофолатредуктазы // Генетика. – 2008. - № 10. С. 1410-1419.
2. Трифонова Е.А., Спиридонова М.Г., Пузырёв В.П., Степанов В.А. Структура гаплотипов локуса метилентетрагидрофолатредуктазы: популяционная специфичность и ассоциация с коронарным атеросклерозом // Медицинская генетика. – 2009. - № № 1(79) стр. 39-47.
3. Barrett J.C., Fry B., Maller J., Daly M. J. Haploview: analysis and visualization of LD and haplotype maps // Bioinformatics. 2005. № 21. Р. 263–265.
4. Daly M.J., Rioux J.D., Schaffner S.F., et al. High-resolution haplotype structure in the human genome // Nature genetics. 2001. V. 29. P. 229-232.
5. Friedman G., Goldschmidt N., Friedlander Y. A common mutation A1298C in human methylenetetra hydrofolate reductase gene: association with plasma total homocysteine and folate concentrations // J Nutr. 1999. № 129. Р. 1656-1661.
6. Frosst P., Blom H.J., Milos R., et al. A candidate genetic risk factor for vascular disease: a common mutation methylenetetrahydrofolate reductase // Nat Genet. 1995. № 10. P. 111—113.
7. Gabriel S.B., Schaffner S.F., Nguyen H., et al. The Structure of Haplotype Blocks in the Human Genome // Science. 2002. V. 296. P. 2225-2229.
8. Goyette P., Pai A., Milos R., et al. Gene structure of human and mouse methylenetetrahydr ofolate reductase // Mammalian Genome. 1998. V. 9. P. 652–656.
9. Rana N.A., Ebenezer N.D., Webster A.R., et al. Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31 // Human Molecular Genetics. 2004. V. 24. Р. 3089—3102.
10. Reich D.E., Cargill M., Bolk S., Ireland J., Sabeti P.C. Linkage disequilibrium in the human genome // Nature. 2001. V. 411. P. 199-204.
11. Shifman S., Kuypers J., Kokoris M., et al. Linkage disequilibrium patterns of the human genome across populations // Human Molecular Genetics. 2003. V. 7. Р. 771—776.
Review
For citations:
Trifonova E.A., Spiridonova M.G., Maksimova N.R., Nogovitsyna A.N., Stepanov V.A. A genetic variety and MTHFR locus haplotypes structure in the Yakut population. Yakut Medical Journal. 2009;(2):40-42. (In Russ.)
Views:
20
Email this article 