title: [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
abstract: Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein (Cx32, GJB1). The contribution of HMSN 1X to the structure of HMSN in the Republic of Bashkortostan was determined. The GJB1 mutations were detected in 18 out of 131 unrelated patients, which constituted 13.7%. The four missense mutations identified were represented by: Pro87Ala (c.259C>G) with the frequency of 10%; Arg22Gln (c.65G>A) (2.98%); Arg15Gln (c.44G>A); and Thr86Ile (c.257C<T) (0.8%). The latter mutation was never described before. The frequent mutation Pro87Ala was tested for linkage disequilibrium with the alleles of five polymorphic microsatellite DNA loci associated with the GJB1. It was demonstrated that 10 out of 13 chromosomes carrying the mutation mentioned had common DXS8111-DXS983-DXS8107-DXS8052 haplotype. This finding suggested the distribution of this mutation on the territory of the Republic of Bashkortostan as a result of the founder effect. The mutational spectrum of GJB1 and mutation frequencies observed in the HMSN 1X patients examined were characterized by ethnic heterogeneity. This finding will provide development of most optimal algorithm of the HMSN DNA diagnostics in the region.
authors.forename: I M
authors.initials: IM
authors.lastname: Khidiianova
authors.forename: E G
authors.initials: EG
authors.lastname: Bagautdinova
authors.forename: D V
authors.initials: DV
authors.lastname: Galieva
authors.forename: N B
authors.initials: NB
authors.lastname: Krupina
authors.forename: O A
authors.initials: OA
authors.lastname: Shchagina
authors.forename: T B
authors.initials: TB
authors.lastname: Tiburkova
authors.forename: R V
authors.initials: RV
authors.lastname: Magzhanov
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001486:Bashkiria / Q000208:ethnology; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D040641:Quantitative Trait Loci / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein