title: [Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of Thomsen's and Becker's myotonias in Russian population].
abstract: Thomsen's (TM) and Becker's (BM) Myotonias are nondystrophic myotonias. At present, 150 mutations in the CLCN1 gene, which results in the development of TM and BM, have been described. c.2680C > T (p.Arg894*) is the most common mutation. In the Northern Scandinavian countries, the population frequency of this mutation is 0.87%, while in the Russian Federation, it is equal to 1.2% (this study). Based on the results of a molecular-genetic analysis of CLCN1 gene in patients with nondystrophic myotonias, the calculated frequency of TM and BM in Russia is 1:8165 and 1:710, respectively. We have conducted haplotype analysis using microsatellite markers and intragene SNP, which has shown that the prevalence of p.Arg894* mutation in Russia results from the founder effect, and the time of its scattering is 3680 ± 1240 years.
authors.forename: E A
authors.initials: EA
authors.lastname: Ivanova
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
mesh_terms: D016022:Case-Control Studies; D018118:Chloride Channels / Q000235:genetics*; D056915:DNA Copy Number Variations; D018703:Founder Effect; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012426:Russia
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels