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การวิเคราะห์การกลายพันธุ์ของยีน SCN10A ในผู้ป่วยโรคนิ่วไตในภาคตะวันออกเฉียงเหนือของไทย ด้วยวิธี high resolution melting (Analysis of SCN10A Gene Mutation in Northeastern Thai Patients with Nephrolithiasis by High Resolution Melting Method) |
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| รหัสดีโอไอ | |
| Creator | สิทธิเดช แสงนวล |
| Title | การวิเคราะห์การกลายพันธุ์ของยีน SCN10A ในผู้ป่วยโรคนิ่วไตในภาคตะวันออกเฉียงเหนือของไทย ด้วยวิธี high resolution melting (Analysis of SCN10A Gene Mutation in Northeastern Thai Patients with Nephrolithiasis by High Resolution Melting Method) |
| Publisher | Genetics Society of Thailand |
| Publication Year | 2556 |
| Journal Title | Thai Journal of Genetics |
| Journal Vol. | S.1 |
| Journal No. | S1 (Special Issue 1) |
| Page no. | 87 |
| Keyword | นิ่วไต, ยีน SCN10A, พีซีอาร์ -เอชอาร์เอ็ม, การกลายพันธุ์,nephrolithiasis, kidney stone disease, SCN10A, PCR-HRM, mutation |
| ISSN | 8578664 |
| Abstract | SCN10A gene, encoding voltage-gated sodium channel 1.8 (NaV1.8), has been suggested as a candidate gene for nephrolithiasis in Northeastern (NE) Thai patients. To analyze mutations of SCN10A gene, polymerase chain reaction-high resolution melting (PCR-HRM) analysis, a powerful method for detection of sequence variations by generating melting curve pattern, was performed in 180 NE patients with nephrolithiasis. A total of 28 variations with 11 novel variations of 8 exonic variations (6 non-synonymous and 2 synonymous) and 3 intronic variations were identified by PCR-HRM and were confirmed by DNA sequencing. All of novel variations have impact on structure and function of the NaV1.8 protein and mRNA splicing process as predicted by 5 web-based programs. These results indicate PCR-HRM provides a simple, rapid, and cost-effective of medium-throughput method that is successfully used for scanning SCN10A gene mutations. Some of the identified mutations in this study may cause nephrolithiasis in NE Thai patients. In order to validate their potential pathogenic effects, therefore, segregation testing in the affected families and functional study should be further investigated. |
