泰国肌强直性营养不良患者与健康对照者的 DMPK 基因 CTG 重复长度比较。

CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand.

机构信息

Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

出版信息

J Clin Neurosci. 2010 Dec;17(12):1520-2. doi: 10.1016/j.jocn.2010.03.047. Epub 2010 Aug 30.

DOI:10.1016/j.jocn.2010.03.047

PMID:20801043

Abstract

Myotonic dystrophy (DM) is frequently associated with large expansions of the cytosine-thymine-guanine (CTG) repeat in the myotonic dystrophy protein kinase gene (DMPK). The frequency of distribution of the CTG repeat length in normal alleles of several populations is well correlated with the prevalence of DM. Therefore, we studied the CTG repeat length of the DMPK gene in DM patients and controls in Thailand. Only seven typical patients with DM from six unrelated families were identified, all with large pathological CTG repeat expansions (> 400 repeats) in the DMPK gene. Only 2.75% of controls had normal CTG repeat alleles > 18 repeats. The frequency distribution of the CTG-repeat alleles in the normal Thai population is similar to that of the Taiwanese population (χ² with Yates correction = 1.393; p = 0.2379). These data suggest that the incidence of DM might be rare in Thailand, where the risk of developing DM is possibly similar to that in Taiwan.

摘要

肌强直性营养不良（DM）常与肌营养不良蛋白激酶基因（DMPK）中的胞嘧啶-胸腺嘧啶-鸟嘌呤（CTG）重复序列的大片段扩增有关。几种人群的正常等位基因中 CTG 重复长度的分布频率与 DM 的流行程度密切相关。因此，我们研究了泰国 DM 患者和对照者的 DMPK 基因 CTG 重复长度。仅从六个无关家庭中鉴定出了七个具有典型 DM 的患者，所有患者的 DMPK 基因均存在大的病理性 CTG 重复扩增（>400 个重复）。只有 2.75%的对照者具有正常 CTG 重复等位基因（>18 个重复）。正常泰国人群 CTG-重复等位基因的频率分布与台湾人群相似（经 Yates 校正的 χ²检验=1.393；p=0.2379）。这些数据表明，DM 的发病率在泰国可能较低，在那里，发生 DM 的风险可能与台湾相似。