1. [The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)]
- Author
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N R, Maksimova, I A, Nikolaeva, M N, Korotkov, T, Ikeuchi, O, Onodera, M, Nishizava, S K, Stepanova, Kh A, Kurtanov, A L, Sukhomiasova, A N, Nogovitsyna, E E, Gurinova, V A, Stepanov, and V P, Puzyrev
- Subjects
Adult ,Male ,Polymorphism, Genetic ,Exons ,Middle Aged ,Poly(A)-Binding Protein II ,Pedigree ,Russia ,Catchment Area, Health ,Muscular Dystrophy, Oculopharyngeal ,Humans ,Point Mutation ,Female ,Trinucleotide Repeat Expansion ,Aged - 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.
- Published
- 2008