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Three novel APC mutations in Thai familial Adenomatous Polyposis patients |
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| รหัสดีโอไอ | |
| Creator | Benjaporn Panichareon, Monthikan Aksornworanart, Wanna Thongnoppakhun, Manop Pithukpakorn, Ekkapong Roothumnong, Thanapat Nilwaranon, Chanin Limwongse, Thawornchai Limjindaporn |
| Title | Three novel APC mutations in Thai familial Adenomatous Polyposis patients |
| Publisher | Genetics Society of Thailand |
| Publication Year | 2559 |
| Journal Title | Genomics and Genetics |
| Journal Vol. | 9 |
| Journal No. | 2&3 |
| Page no. | 85-94 |
| Keyword | familial adenomatous polyposis, APC gene, DHPLC, mutations |
| ISSN | 24655198 |
| Abstract | Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease that is characterized by multiple adenomatous polyps in the colon and rectum. Adenomatous polyposis coli gene (APC) mutations are the causative event for FAP. APC consists of 15 exons, which encode 2,843 amino acids. The APC protein acts as a tumor suppressor and plays a role in several cellular processes. Here we investigated APC mutations in 20 unrelated Thai patients with FAP using denaturing high-performance liquid chromatography followed by DNA sequencing. Twenty mutations were identified in this study. Three mutations were novel mutations, including one nonsense mutation (c.2560A>T), one deletion mutation (c.4634_4638delCAAAT) and one indel mutation (c.3746_3748delinsAA). Data from mutations in Thai patients with FAP will be useful for molecular genetics diagnosis and genetic counseling of patients with FAP. |
