碩士 / 國立臺灣大學 / 醫學工程學研究所 / 92 / Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and Africa area. It is a single gene inheritable disease resulting from single or few nucleotides mutations on the beta-globin gene.
The purpose of this study is to develop a rapid, reliable and economic molecular diagnosis method for common mutational screening in beta-thalassemia. We did develop a rapid and highly specific mutation screening test for the diagnosis of beta-thalassemia by coupling heteroduplex and primer extension analysis based on the Denaturing High Performance Liquid Chromatography (DHPLC) system. The sensitivity and specificity of this method were evaluated in 161 Taiwan healthy heterozygous carriers with 10 different beta-globin mutations and 30 patients with 12 different compound heterozygous or homozygous beta-thalassemia mutations.
By using heteroduplex analysis, all the sequence variants could be identified precisely. The sensitivity and the specificity reached up to 99%. Furthermore, we developed primer extension analysis coupled with DHPLC as a powerful tool for genotyping eight common mutations in the beta-globin gene.
Compared to classic approaches of mutation screening, this method allows a rapid, highly sensitive, highly specific, cost effective and semi-automated mutational screening of a large number of samples. Therefore, mutational analysis of coupling heteroduplex analysis and primer extension by DHPLC is capable to be the first-line clinical screening and diagnosis tool for beta-thalassemia patients.
| Identifer | oai:union.ndltd.org:TW/092NTU01530011 |
| Date | January 2003 |
| Creators | Hung, Chia-Cheng, 洪加政 |
| Contributors | Lin, Win-Li, Hsieh, Fon-Jou, 林文澧, 謝豐舟 |
| Source Sets | National Digital Library of Theses and Dissertations in Taiwan |
| Language | zh-TW |
| Detected Language | English |
| Type | 學位論文 ; thesis |
| Format | 63 |
Page generated in 0.0098 seconds