目的：不同发病机制的Prader-Willi综合征（PWS）在临床表现、预后和遗传风险上均存在一定差异，目前临床常用的确诊方法甲基化特异性PCR（MS-PCR）不能区分发病机制，本研究采用甲基化特异性多重连接依赖的探针扩增（MS-MLPA）技术诊断PWS，探讨其在诊断以及分辨发病机制上的优势。方法：采用系统对照的方法，取经临床MS-PCR检查的30例患儿的外周血样本，其中包括通过MS-PCR确诊为PWS的病例16例，阴性对照病例14例，重新提取DNA，采用MS-MLPA试剂盒Me028进行基因检测分析。结果MS-MLPA检测结果与MS-PCR检测结果一致，且检测出16例PWS病例中4例源于母源性同源二倍体，12例源于父源性15q11-q13区域缺失。结论：MS-MLPA是能鉴别PWS发病机制的一种可靠的实验诊断方法。
Abstract
OBJECTIVE: Prader-Willi syndrome (PWS) with different pathogenesis has different clinical manifestations, prognosis and genetic risks. Pathogenesis of the disease cannot be explained by conventional diagnostic method MS-PCR. This study employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the diagnosis of PWS in order to explore the role of this method in the diagnosis and assessment of pathogenesis of PWS. METHODS: A system antithetical method was employed. Peripheral blood samples were collected from 30 children for MS-PCR. Of the 30 children, 16 were diagnosed with PWS by MS-PCR and the other 14 showed negative MS-PCR. MS-MLPA kit Me028 was used to detect DNA extracted from the 30 samples. RESULTS: The results showed by MS-MLPA and MS-PCR were identical. MS-MLPA demonstrated that 4 cases were maternal uniparental disomy and 12 cases were paternal dfeletion in 15q11-q13 region. CONCLUSIONS: MS-MLPA is a reliable method of genetic testing for PWS which can distinguish pathogenesis of PWS.
关键词
Prader-Willi综合征 /
甲基化特异性PCR /
甲基化特异性MLPA /
儿童
Key words
Prader-Willi syndrome /
Methylation-specific PCR /
Methylation-specific MLPA /
Child
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参考文献
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