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Multiplex-STR panels comprehensive for a timely molecular diagnosis of ADPKD |
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| รหัสดีโอไอ | |
| Creator | 1. Pattareeya Plurksathaporn 2. Duangkamon Bunditworapoom 3. Ekkapong Roothumnong 4. Mattana Amesbutr 5. Chanin Limwongse 6. Kriengsak Vareesangthip 7. Wanna Thongnoppakhun |
| Title | Multiplex-STR panels comprehensive for a timely molecular diagnosis of ADPKD |
| Publisher | Genetics Society of Thailand |
| Publication Year | 2558 |
| Journal Title | Thai Journal of Genetics |
| Journal Vol. | 8 |
| Journal No. | 2 |
| Page no. | 143 - 149 |
| Keyword | ADPKD, linkage analysis, short tandem repeat (STR), multiplex, Thai population |
| ISSN | 24081310 |
| Abstract | Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease caused by either PKD1 or PKD2 mutations that can lead to fatal end-stage renal disease (ESRD). Direct mutation analysis of ADPKD remains complicated and time consuming. Haplotype-based linkage analysis within-pedigree is a straightforward, alternatively molecular method to diagnose ADPKD, especially in some urgent situations. This study aimed to develop a rapid and efficient short tandem repeat (STR)-haplotype analysis for Thai ADPKD families by investigating in 100 unrelated Thai chromosomes for the informativeness of the 10 and 8 STRs located flanking or within PKD1 and PKD2 genes, respectively. The method was based on multiplex fluorescent polymerase chain reaction (MF-PCR) coupled with detection by laser-induced fluorescent capillary electrophoresis (CE). Two highly informative, multiplex STR panels for rapid, inexpensive and comprehensive molecular diagnosis of both PKD1 ('PKD1A': 7 Plex STR) and PKD2 ('PKD2': 8 Plex STR) were validated and demonstrated the usefulness in ADPKD families with unknown causative mutations who require timely decision for kidney transplantation from the living-related kidney donors or planning for pre-implantation genetic diagnosis (PGD). This study would be beneficial for differential diagnosis among PKD1, PKD2 or related cystic diseases to timely give a genetic counseling, appropriate management and prognosis to the patients' families, not only Thais but also Asians and other populations. |
