甲基化特异性三重PCR检测FMR1基因突变的研究

Evaluation of a methylation specific tripe PCR for diagnosis of fragile X syndrome

目的探讨甲基化特异性三重PCR检测FMR1基因不同突变类型的价值。方法用甲基化特异性三重PCR方法检测了99例病人的FMR1基因,并用半巢式PCR和Southern印迹杂交方法进行比较。结果用甲基化特异性三重PCR检测出70例男性正常基因型、27例女性正常基因型,1例男性全突变基因型,1例女性前突变基因型,与半巢式PCR和Southern印迹杂交方法的检测结果相符。结论甲基化特异性三重PCR能准确检测FMR1突变的不同类型,适用于对脆性X综合征的临床筛查和诊断。

Objective：To evaluate the role of methylation specific triple PCR （Tms-PCR） method in the diagnosis of fragile X syndrome.Methods：Ninety-nine DNA samples were collected from the patients who were suspected as fragile X syndrome clinically including unexplained mental retardation and diagnosed as fragile X syndrome by cytogenetic.The FMR1 genotype were detected using Tms-PCR method;then were compared with the results from the canalis nested PCR and southern blot.Results：Tms-PCR identified seventy normal males,twenty-seven normal females,one full mutation male and one pre-mutation female.The result is validated by the canalis nested PCR and southern blot.Conclusions：Tms-PCR is accurate method for detecting the different mutation types of the FMR1gene,which is suitable to screen and diagnose the fragile X syndrome.