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[The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)]
- Source :
- Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 108(6)
- Publication Year :
- 2008
-
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.
Details
- ISSN :
- 19977298
- Volume :
- 108
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
- Accession number :
- edsair.pmid..........266b096aa2a03cdb164bdd7fd7233a03