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Development and validation of a singleโtube multiplex PCRfor rapid screening of Fragile X and Fragile XE syndromesof FMR1 and FMR2 genes |
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| รหัสดีโอไอ | |
| Creator | 1. Areerat Hnoonual 2. Duangkamol Tangviriyapaiboon 3. Chariyawan Charalsawadi 4. Pornprot Limprasert |
| Title | Development and validation of a singleโtube multiplex PCRfor rapid screening of Fragile X and Fragile XE syndromesof FMR1 and FMR2 genes |
| Publisher | Research and Development Office,Prince of Songkla University |
| Publication Year | 2564 |
| Journal Title | Songklanakarin Journal of Science and Technology (SJST) |
| Journal Vol. | 43 |
| Journal No. | 3 |
| Page no. | 816-823 |
| Keyword | FMR1, FMR2, fragile X syndrome, multiplex PCR, screening |
| URL Website | https://rdo.psu.ac.th/sjstweb/ |
| ISSN | 0125-3395 |
| Abstract | Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the expansion of a trinucleotiderepeat in the FMR1 and FMR2 genes, respectively. Currently, there are several methods available for fragile X syndromescreening in a large population, however these methods require relatively expensive equipment and have limitations in somelaboratory settings. This study developed a multiplex PCR of triplet repeats in FMR1 and FMR2 genes using standard PCRinstruments. The new multiplex PCR method was tested in known samples with variable repeat sizes of FMR1 and FMR2 genesto validate the technique and was then applied to prospective index male samples. All the multiplex PCR results matched wellresults from standard methods. We propose a singleโtube multiplex PCR technique, which is very reliable for rapid screeningFMR1 and FMR2 normal and expanded alleles in males for a large cohort study, and can be used in limited-resource settings |
