Haplotype diversity in the gene DMPK in myotonic dystrophy sample of patients from the RS (Y) and in populations of Northern Eurasia
Abstract
Analysis of six SNP in the muscle protein kinase (DMPK) gene, responsible for development of myotonic dystrophy (DM) was done. Six populations of Northern Eurasia (N = 778) and DM patients of the indigenous Yakut population (N = 87) were investigated. Population-genetical characterization of the studied loci, allele and haplotype frequencies comparison were performed and coupling disequilibrium structure was analyzed. Haplotypes associated with the disease were found, significant differences for the studied loci among Ket, Buryat, Russian and Khanty populations were revealed, haplotype blocks of coupling disequilibrium in the investigated samples were shown.
About the Authors
S. K. Stepanova
Yakut Scientific Center of integrated medical problems SB RAMS
Russian Federation
Russian Federation
Yakutsk
M. G. Spiridonova
Siberian state Medical University
Russian Federation
Russian Federation
Tomsk
A. V. Marusin
Research Institute of Medical Genetics SB RAMS
Russian Federation
Russian Federation
Tomsk
A. L. Suhomyasova
Republican Hospital № 1-National Centre of Medicine
Russian Federation
Russian Federation
Yakutsk
V. A. Stepanov
Research Institute of Medical Genetics SB RAMS
Russian Federation
Russian Federation
Tomsk
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Review
For citations:
Stepanova S.K., Spiridonova M.G., Marusin A.V., Suhomyasova A.L., Stepanov V.A. Haplotype diversity in the gene DMPK in myotonic dystrophy sample of patients from the RS (Y) and in populations of Northern Eurasia. Yakut Medical Journal. 2011;(4):30-33.
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