[萨哈（雅库特）共和国眼咽型肌营养不良的临床谱系及分子遗传学特征]

[The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].

作者信息

Maksimova N R, Nikolaeva I A, Korotkov M N, Ikeuchi T, Onodera O, Nishizava M, Stepanova S K, Kurtanov Kh A, Sukhomiasova A L, Nogovitsyna A N, Gurinova E E, Stepanov V A, Puzyrev V P

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2008;108(6):52-60.

PMID:18577936

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.

摘要

对萨哈（雅库特）共和国的眼咽型肌营养不良症（OPMD）进行了临床遗传学和分子遗传学研究。研究了33个无亲缘关系的雅库特家庭，其中有38名患者，以及2个俄罗斯家庭，有2名患者及其59名健康亲属。在OPMD患者中发现了该疾病的高度临床多态性。揭示了PABPN1基因第1外显子中的突变，导致GCG重复序列扩展至10个。通过对17个家庭（16个雅库特家庭、1个俄罗斯家庭）的PABPN1基因进行直接测序，我们确定这种突变类型为插入4个GCG重复序列。OPMD在雅库特人群中的发病率为1:11 680，与欧洲人群相比高10至20倍。这是关于萨哈共和国OPMD患者的首份报告，其诊断经分子遗传学分析得以证实。