[The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].
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.
Maksimova
N R
NR
Nikolaeva
I A
IA
Korotkov
M N
MN
Ikeuchi
T
T
Onodera
O
O
Nishizava
M
M
Stepanova
S K
SK
Kurtanov
Kh A
KhA
Sukhomiasova
A L
AL
Nogovitsyna
A N
AN
Gurinova
E E
EE
Stepanov
V A
VA
Puzyrev
V P
VP
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
D039103:Poly(A)-Binding Protein II