Polymorphism of OPhMD locus in populations of Yakutia
Abstract
In article three one-nucleotide polymorphic sites (rs2231301, rs1950252, rs2268330) in a locus of oculopharyngeal myodistrophy (OPhMD) are examined. OPhMD is a myopathy with late manifeSTATion due to a mutation (expansion (GCN) 10 repetitions to (GCN) 12-17 on a chromosome 14q11 in the 1st exon of gene PABPN. Results of research have allowed revealing factor of genetic differentiation of populations of Yakutia in comparison with world data. Haplotypes frequencies which have shown, that three populations of Yakuts are practically identical on haplotype structure and on frequencies of extended haplotypes. The analysis of unequilibrium structure on coupling has shown high coupling on the first and the third SNP (rs2231301 and rs2268330). On the basis of frequencies of genotypes of ОPhMD locus the phylogenetic tree of genetic distances between six studied populations of Yakutia has been simulated.
About the Authors
H. A. Kurtanov
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
N. R. Maksimova
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
A. V. Marusin
НИИ медицинской генетики 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:
Kurtanov H.A., Maksimova N.R., Marusin A.V., Stepanov V.A. Polymorphism of OPhMD locus in populations of Yakutia. Yakut Medical Journal. 2009;(2):54-58. (In Russ.)
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