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首页> 外文期刊>Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia >Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients.
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Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients.

机译：泰国患者眼咽肌营养不良的突变和单倍型分析。

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摘要

Oculopharyngeal muscular dystrophy (OPMD) is an inherited neuromuscular disease associated with a short trinucleotide repeat expansion in Exon 1 of the PABPN1 gene. OPMD is uncommon in East Asian populations, and there have been no previous reports of Thai patients. We studied clinical and molecular genetic features of six unrelated Thai patients with autosomal dominant OPMD. All patients had expansions of the guanine-cytosine-guanine (GCG) repeat ranging from three to seven additional repeats in the PABPN1 gene. Haplotype analysis showed that these mutations might have originated independently. Analysis of the size of the GCG repeat in the PABPN1 gene in 200 Thai control patients showed that 0.5% of the control subjects possessed (GCG)(7), thereby suggesting that the prevalence of autosomal recessive OPMD in the Thai population was approximately 1 in 160,000. In conclusion, our data suggest that OPMD in Thailand may be more common than previously thought.
机译：眼咽肌营养不良症（OPMD）是一种遗传性神经肌肉疾病，与PABPN1基因第1外显子中的短三核苷酸重复扩增有关。 OPMD在东亚人群中并不常见，以前没有泰国患者的报道。我们研究了六名无关的泰国常染色体显性遗传OPMD患者的临床和分子遗传学特征。所有患者的PABPN1基因中的鸟嘌呤-胞嘧啶-鸟嘌呤（GCG）重复序列的扩增范围为3至7个其他重复序列。单倍型分析表明，这些突变可能是独立发生的。对200例泰国对照患者PABPN1基因中GCG重复序列的大小分析表明，有0.5％的对照受试者具有（GCG）（7），因此表明泰国人群中常染色体隐性隐性OPMD的患病率约为1％。 160,000。总之，我们的数据表明，泰国的OPMD可能比以前认为的更为普遍。

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