一种脆性X综合征新检测方法的应用及探讨

Application and investigation of a new genetic technology for fragile X syndrome

目的建立一种更快捷、准确、简便的检测脆性X综合征的方法。方法用传统的基因组酶切-PCR法与TP-PCR法同时对26例可疑患儿进行基因检测。结果基因组酶切PCR法共检测4例男性患者,其余均未见异常;TP-PCR法不仅检测出4例男性患者,且检测出1例女性携带者。结论 TP-PCR法是一种准确、快速、简便和相对价廉的方法,可以快速筛查脆性X综合征的基因诊断方法。

Objective To establish a rapid, correct and available detection method for fragile X ods We used AmplideXTM FMR1 PCR Kit to detect samples from 26 suspected patients including 21 male and 5 female patients. All patients were also studied by using genomic EagI restriction enzyme PCR method for compari- son. Results （CGG） n trinucleotide repeat of normal samples was accurately identified by PCR method. There are 5 positive patients of fragile X syndrome which included by 4 full mutation patients and 1 female carrier by TP- PCR while the control method found 4 positive men patients only. Conclusions TP-PCR is a accurate, rapid, sim- ple and inexpensive method. It is a competetive technology for screening fragile X syndrome.