Home|Journals|Articles by Year Follow on Twitter

Directory for Medical Articles

Open Access


Optimizing a multiplex high resolution melting curve to diagnose G6PD deficiency based on viangchan and canton mutations

Nghia Le Tri, Giang Thanh Nguyen-Dien, Anh Thi Lan Dang, Ngoc Tran Bao, Hien Tran Tinh, Hue Thi Nguyen.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency which is caused by mutation on G6PD gene is the most common enzyme disorder in human. There have been 184 discovered mutations among which Viangchan [Val291Met] and Canton mutation [Arg459Leu] are the most common variants in Vietnamese. Due to the severity of this disease, several methods have been devised for diagnostics. However, time-consuming, low sensitivity and expensiveness are major problems of those techniques. Recently, High Resolution Melting (HRM) has been developed and proven to be an effective method for DNA genotyping, mutation scanning and sequence matching. Hence, in this study a multiplex HRM has been developed aiming at detecting these two mutations concurrently. At first, a singleplex HRM was designed for each mutation. Then, conditions for these singleplex assay were combined and optimized again in order to get the optimal condition for multiplex HRM. Although this method showed a promising potential with a high accuracy, sensitivity, and specificity, it is impractial to continue developing this method because of the lack of controls. However, the optimized singleplex PCR-HRM in this study still can be used for single mutation detection and serve as the background to develop PCR-HRM for other G6PD mutations in Vietnamese-Kinh population.

Key words: Canton mutation, Diagnostics, G6PD deficiency, Genotype, HRM , PCR,Viangchan mutation

Full-text options

Full-text Article

American Journal of Diagnostic Imaging


BiblioMed Home
Follow ScopeMed on Twitter
Author Tools
eJPort Journal Hosting
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright ScopeMed Information Services.