Prader-Willi综合征分子遗传学诊断  

Molecular genetics diagnosis of Prader-Willi syndrome

作　　者：高力敏[1] 石岩[1] 

机构地区：[1]山西医科大学第一临床医学院儿科,太原030001

出　　处：《中国医疗前沿》2011年第2期73-74,共2页China Healthcare Innovation

摘　　要：目的为临床怀疑Prader-Willi综合征(PWS)的患者建立快速准确的分子诊断方法,有利于早期治疗。方法对门诊以肥胖和智力落后就诊的1例患者根据1993年Holm等提出的临床诊断标准,高度怀疑Prader-Willi综合征,采用盐析法提取基因组DNA并经亚硫酸盐修饰,应用甲基化特异性PCR,扩增产物以琼脂糖凝胶电泳分离。结果正常对照显示父源(P)和母源(M)2条带,而患者显示母源(M)1条带。该患者确诊为Prader-Willi综合征。结论甲基化方法结果与临床诊断吻合度高。在临床高度怀疑PWS时,建议用甲基化方法快速确诊,以使患儿能得到及时治疗。Objective To set up a fast and easy genetic test for patients with clinically suspected of Prader-Willi syndrome and facilitate early diagnosis and early intervention for these patients.Methods One patient with obesity and mental was suspected of Prader-Willi syndrome according to the criteria proposed by Holm et al in 1993.Genome DNA was extracted by salt fractionation method and treated with EZ DNA Methylation-GoldTM Kit,DNA was processed with methylation-specific PCR（MS-PCR） and separated by agarose gel electrophoresis.Results Two normal controls showed both M and P products,while the PWS patient demonstrated only M product.So the case was confirmed with PWS by MS-PCR.Conclusions Methylation test has been proven as useful test for the diagnosis of PWS,suggesting that it can be used to diagnose the patients with suspected of Prader-Willi syndrome and assure them get intervintion timely.

关 键 词：PRADER-WILLI综合征 甲基化特异性PCR 基因组印记 

分 类 号：R442.8[医药卫生—诊断学] R446.6[医药卫生—临床医学]