Prader-Willi综合征的分子遗传学诊断与机制研究  

Genetic diagnosis and mechanism of Prader-Willi syndrome

作　　者：朱丽娜[1] 何玺玉[1] 王春枝[1] 杨晓[1] 刘欣[1] 王蔚[1] 马宁[1] 刘海洪[1] 王艳[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院临床遗传学中心,北京100700

出　　处：《山西医科大学学报》2008年第12期1064-1067,共4页Journal of Shanxi Medical University

基　　金："十一五"全军面上基金资助项目(06BM074)

摘　　要：目的探讨Prader-Willi综合征(PWS)高效、特异的检测方法,分析其遗传学发生机制。方法采用甲基化特异性聚合酶链反应(methylation-specific PCR,MSPCR)及多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术对疑似20例Prader-Willi综合征患儿的DNA样本进行基因分析。结果MSPCR结果提示2例阳性患儿均存在父源15q11-13区域的缺失,母源15q11-13区域存在。MLPA结果提示病例1的发病原因为父源15q11-13区域的缺失,病例2为母源同源二倍体。结论Prader-Willi综合征与父源15q11-13印迹基因功能异常相关,MSPCR可以作为一种高效特异的方法检测PWS患儿,应用MLPA技术可以判别阳性病例是由于基因缺陷或单亲二体所致,为临床诊治提供科学依据。Objective To explore a more efficient method for detecting PWS and to analyze its inherited basis and genetic defects in PWS patients. Methods Methylation-specific PCR （MSPCR） and multiplex ligation-dependent probe amplification （MLPA） assay were applied for detecting genetic disorders of the patients with clinically suspected PWS. Results The results of MSPCR showed that paternal deletions on chromosome 15q11 - 13 were detected in 2 positive patients, with the presence of maternal chromosome 15q11 - 13. MLPA results showed that patient 1 was identified chromosome 15q11 - 13 paternal deletion, and patient 2 was identified maternal uniparental disomy （UPD）. Conclusion The PWS is related with the functional absence of imprinting genes. MSPCR is a sensitive and specific method for detecting PWS. MLPA assay can be applied to clarify the pathogenesis and provide a scientific basis for clinical diagnosis.

关 键 词：PRADER-WILLI综合征 MSPCR MLPA 印迹基因 

分 类 号：R596[医药卫生—内科学]