Сибирский федеральный университет

Тип публикации: статья из журнала

Год издания: 2015

Идентификатор DOI: 10.1134/S1022795415060150

Ключевые слова: myotonic dystrophy protein kinase, Article, controlled study, dmpk gene, gene, gene frequency, gene locus, genetic variability, haplotype, human, major clinical study, molecular phylogeny, myotonic dystrophy, polymerase chain reaction, priority journal, restriction fragment length polymorphism, single nucleotide polymorphism, Yakut (people)

Аннотация: The genetic variability of the DMPK locus has been studied in relation to six SNP markers (rs2070736, rs572634, rs1799894, rs527221, rs915915, and rs10415988) in Yakuts with myotonic dystrophy (MD) in the Yakut population and in populations of northern Eurasia. Significant differences were observed in the allele frequencies between patients and a population sample of Yakuts for three SNP loci (rs915915, rs1799894, and rs0415988) associated with a high chance of disease manifestation. The odds ratios (OR) of MD development in representatives of the Yakut population for these three loci were 2.59 (95% CI, p = 0,004), 4.99 (95% CI, p = 0.000), and 3.15 (95% CI, p = 0.01), respectively. Haplotype TTTCTC, which is associated with MD, and haplotype GTCCTT, which was observed only in Yakut MD patients (never in MD patients of non-Yakut origin), were revealed. A low level of variability in the locus of DMRK gene in Yakuts (He = 0.283) compared with other examined populations was noted. An analysis of pairwise genetic relation- ships between populations revealed their significant differentiation for all the examined loci. In addition, a low level of differentiation in territorial groups of Yakut populations (FST = 0.79%), which was related to the high subdivision of the northern Eurasian population (FST = 11.83%), was observed © Pleiades Publishing, Inc., 2015.

Журнал: Russian Journal of Genetics

Выпуск журнала: Vol. 51, Is. 6

Номера страниц: 619-626

• Swarovskaya M.G. (National Research Tomsk State University, Tomsk, Russian Federation, Institute of Medical Genetics, Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, Russian Federation, Department of Medical Genetics, Siberian State Me)
• Stepanova S.K. (Yakut Research Center of Complex Medical Problems, Siberian Branch, Russian Academy of Sciences, Yakutsk, Russian Federation)
• Marussin A.V. (Institute of Medical Genetics, Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, Russian Federation)
• Sukhomyasova A.L. (Yakut Research Center of Complex Medical Problems, Siberian Branch, Russian Academy of Sciences, Yakutsk, Russian Federation)
• Maximova N.R. (Yakut Research Center of Complex Medical Problems, Siberian Branch, Russian Academy of Sciences, Yakutsk, Russian Federation, Northern-Eastern Federal University and Medical Institute Clinics, Laboratory of Genomic Medicine, Yakutsk, Russi)
• Stepanov V.A. (National Research Tomsk State University, Tomsk, Russian Federation, Institute of Medical Genetics, Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, Russian Federation)

• Scopus