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