Analysis of polymorphic markers in muscle proteinkinase gene and association with myotonic dystrophy in Yakut population
Abstract
Six SNP markers - DraIII, HhaI, BpmI, HphI, Fnu4HI, TaqI in the DMPK gene in healthy and myotonic dystrophy Yakuts, residing in the settlements located on the territory of the Republic of Sakha (Yakutia) were аnalysed. The population-genetics characteristic and relative risk of six locus have been studied. The relative risk for Т-allele Fnu4HI and В-allele TaqI increased significantly. The analysis groups healthy and myotonic dystrophy Yakuts were revealed the predispose roles to myotonic dystrophy h1 and h2 haplotypes. The haplotypes h4 and h5 are protective roles on the contrary. The аnalyses of linkage disequilibrium in myotonic dystrophy Yakuts were investigated. The block of adhesion in tHis group is not shown. Two short blocks in healthy group were detected.
About the Authors
M. G. Spiridonova
НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
N. V. Trapp
Биологический институт ТГУ
Russian Federation
Russian Federation
S. K. Stepanova
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
A. V. Marusin
НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
A. L. Suhomjasova
РБ№1-НЦМ;
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
V. A. Stepanov
НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
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Review
For citations:
Spiridonova M.G., Trapp N.V., Stepanova S.K., Marusin A.V., Suhomjasova A.L., Stepanov V.A. Analysis of polymorphic markers in muscle proteinkinase gene and association with myotonic dystrophy in Yakut population. Yakut Medical Journal. 2009;(2):156-159. (In Russ.)
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