[14例无大片段缺失的中国杜氏/贝克型肌营养不良患者的抗肌萎缩蛋白基因突变筛查]
[Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions].
作者信息
Xue Jinjie, Zhu Haiyan, Wu Lingqian, Liang Desheng, Pan Qian, Long Zhigao, Dai Heping, Xia Kun, Xia Jiahui
机构信息
National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):633-6.
OBJECTIVE
To search for the dystrophin gene mutations of Duchenne muscular dystrophy (DMD) patients without gross deletions, in order to offer accurate genetic counseling and prenatal diagnosis for those families.
METHODS
All 79 exons of the dystrophin gene as well as its 5'-UTR and 3'-UTR of 14 Chinese DMD/Becker muscular dystrphy (BMD) patients without detectable gross deletions were screened by denaturing high performance liquid chromatography (DHPLC) and heteroduplex fragments were identified by subsequent sequencing.
RESULTS
Seven causative point mutations, including two novel ones, were detected in 7 patients. Fourteen known polymorphisms and 7 unknown intronic variations were also detected. Five mothers of the patients were obligate carriers.
CONCLUSION
DHPLC is an efficient way of identifying point mutations and the female carriers in DMD families.
目的
寻找无大片段缺失的杜氏肌营养不良症（DMD）患者的肌营养不良蛋白基因突变，以便为这些家庭提供准确的遗传咨询和产前诊断。
方法
采用变性高效液相色谱法（DHPLC）对14例未检测到大片段缺失的中国DMD/贝克型肌营养不良症（BMD）患者的肌营养不良蛋白基因的所有79个外显子及其5'-UTR和3'-UTR进行筛查，并通过后续测序鉴定异源双链片段。
结果
在7例患者中检测到7个致病点突变，其中包括2个新突变。还检测到14个已知多态性和7个未知内含子变异。5名患者的母亲为肯定携带者。
结论
DHPLC是鉴定DMD家系中点突变和女性携带者的有效方法。
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