Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR

  • Authors:
    • Zhengyou Miao
    • Xiaodan Liu
    • Weiwei Li
    • Qunyan He
    • Xia Liu
  • View Affiliations

  • Published online on: April 13, 2018     https://doi.org/10.3892/etm.2018.6060
  • Pages: 5107-5112
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Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. It has previously been demonstrated that prenatal genetic diagnosis is efficient for the diagnosis of FXS. The present study investigated the diagnostic effects of nested polymerase chain reaction (PCR) for fragile X mental retardation 1 (FMR1) and expanded CGG repeats. It was demonstrated that the nested PCR assay rapidly measured the multi‑copies of the FMR1 gene in individual samples. The nested PCR assay detected normal CGG repeat lengths and expanded CGG repeat lengths with a low occurrence of false positives. In addition, the nested PCR assay resulted in increased sensitivity and specificity for patients with FXS. Furthermore, the nested PCR assay identified the mutation and generated conclusive cases for FXS, indicating that this assay is beneficial for the diagnosis of FXS patients. In conclusion, these outcomes indicate that nested PCR assay is a reliable and easier method for diagnosis of FXS, which may be used for the diagnosis of FXS patients.
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June-2018
Volume 15 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Miao Z, Liu X, Li W, He Q and Liu X: Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Exp Ther Med 15: 5107-5112, 2018.
APA
Miao, Z., Liu, X., Li, W., He, Q., & Liu, X. (2018). Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Experimental and Therapeutic Medicine, 15, 5107-5112. https://doi.org/10.3892/etm.2018.6060
MLA
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15.6 (2018): 5107-5112.
Chicago
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15, no. 6 (2018): 5107-5112. https://doi.org/10.3892/etm.2018.6060