Basic & Clinical Medicine ›› 2015, Vol. 35 ›› Issue (4): 454-457.

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


  • Received:2014-03-04 Revised:2014-12-26 Online:2015-04-05 Published:2015-04-08
  • Contact: Feng-Xia YAO
  • Supported by:
    National Natural Science Foundation of China

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