We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR.
- Authors
Miao, Zhengyou; Liu, Xiaodan; Li, Weiwei; He, Qunyan; Liu, Xia
- 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.
- Subjects
FRAGILE X syndrome; HUMAN chromosome abnormalities; POLYMERASE chain reaction; PRENATAL diagnosis; AUTISM spectrum disorders
- Publication
Experimental & Therapeutic Medicine, 2018, Vol 15, Issue 6, p5107
- ISSN
1792-0981
- Publication type
Article
- DOI
10.3892/etm.2018.6060