| ORIGINAL ARTICLE
|Year : 2016 | Volume
| Issue : 6 | Page : 1175--1179
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis
Srinivasan Muthuswamy, Deepika Delsa Dean, Sarita Agarwal
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Genetics, Lucknow, Uttar Pradesh, India
Background: Fragile X syndrome (FXS) is also a leading cause of intellectual disability along with Down's syndrome. It is caused by the expansion of CGG triplet repeat at 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. Since the prevalence rate is quite high in the general population, molecular diagnosis is important to establish the cause and the prenatal diagnosis. At present, there are a number of methods available with their own merits and demerits.
Aim and Methods: Molecular screening of intellectually disabled patients and those with premature ovarian failure with combined triplet repeat primed polymerase chain reaction (TP-PCR) and methylation-specific polymerase chain reaction (MS-PCR) for establishing the diagnosis of FXS.
Results: The specificity of the method has been validated with archived previously genotyped samples, facilitating the application of this method in the screening procedure. The combined TP-PCR and MS-PCR approach identified six (10%) of the intellectually disabled cases as full mutation positive, one (4%) of the premature ovarian failure cases as premutation positive, and one (out of two) of the prenatal samples as premutation positive.
Conclusion: The present study concludes that a combined usage of TP-PCR and MS-PCR will be a useful alternative approach to diagnose patients suffering from fragile X syndrome.
Prof. Sarita Agarwal
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Genetics, Lucknow, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
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