title: [The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].
abstract: The clinical-genealogic and molecular-genetic investigation of oculopharyngeal muscular dystrophy (OPMD) in the Republic of Sakha (Yakutia) was performed. It was investigated 33 unrelated Yakut families with 38 patients and 2 russian families with 2 patients and 59 their healthy relatives as well. The high clinical polymorphism of disease was found in patients with OPMD. The mutation in exon 1 of the PABPN1 gene resulting in the expansion of GCG-repeats up to 10 is revealed. Using direct sequencing of the PABPN1 gene in 17 families (16 Yakut, 1 Russian), we identified a type of this mutation as an insertion of 4 GCG-repeats. Frequency of OPMD in the Yakut population is 1:11 680 that is 10-20 times higher comparing to european populations. This is a first report on the patients with OPMD from the Republic of Sakha with diagnosis confirmed by molecular-genetic analysis.
authors.forename: N R
authors.initials: NR
authors.lastname: Maksimova
authors.forename: I A
authors.initials: IA
authors.lastname: Nikolaeva
authors.forename: M N
authors.initials: MN
authors.lastname: Korotkov
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
authors.forename: O
authors.initials: O
authors.lastname: Onodera
authors.forename: M
authors.initials: M
authors.lastname: Nishizava
authors.forename: S K
authors.initials: SK
authors.lastname: Stepanova
authors.forename: Kh A
authors.initials: KhA
authors.lastname: Kurtanov
authors.forename: A L
authors.initials: AL
authors.lastname: Sukhomiasova
authors.forename: A N
authors.initials: AN
authors.lastname: Nogovitsyna
authors.forename: E E
authors.initials: EE
authors.lastname: Gurinova
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
mesh_terms: D000328:Adult; D000368:Aged; D002391:Catchment Area, Health; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000453:epidemiology* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012426:Russia / Q000453:epidemiology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D039103:Poly(A)-Binding Protein II