基础医学与临床 ›› 2015, Vol. 35 ›› Issue (4): 454-457.
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姚凤霞1,冯暄2,张为民1,韩娟娟1,黄尚志3
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摘要： 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。
关键词: 脆性X综合征, FMR-1基因, 基因诊断
Abstract: Objective To establish a rapid、correct、available detection method for fragile X syndrome. Methods we used AmplideXTM FMR1 PCR Kit to detect samples from 26 suspected patients which included by 21 male and 5 female patients. All patients were also studied by using genomic EagI restriction enzyme PCR method in comparison with the above method. Result The results showed that the (CGG) n trinucleotide repeat of normal samples could be identified accurately by the PCR method. The results show there are 5 positive patients of fragile X syndrome which included by 4 full mutation patients and 1 female carrier. meanwhile, the results show 4 positive men patients, not detect the female carrier. Inclusion TP-PCR is a accurate, rapid, simple and inexpensive method. It could be used as a technology for screening fragile X syndrome.
Key words: fragile X syndrome, FMR-1, genetical diagnosis
姚凤霞 冯暄 张为民 韩娟娟 黄尚志. 一种脆性X综合征新检测方法的应用及探讨[J]. 基础医学与临床, 2015, 35(4): 454-457.
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