Detection of beta-thalassemia mutations by PCR with vent DNA polymerase
- Author:
Nguyen Hoai Giang
- Publication Type:Journal Article
- Keywords:
Beta-thalassemia mutation;
Vent DNA polymerase;
Detection;
PCR method;
- MeSH:
beta-Thalassemia;
DNA;
Polymerase Chain Reaction;
Diagnosis
- From:Journal of Preventive Medicine
2005;15(5):179-183
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
Beta-Thalassemia is a blood disease with beta-globin deficiency caused by a directly down-regulation in the synthesis of structurally normal beta chains. Vent DNA polymerase is a high-fidelity thermophilic DNA polymerase, and the fidelity 5 - 15 times higher than Taq DNA polymerase (1/31,000 vs. 1/290 - 1/2,400). Using ARMS PCR (Amplification Refractor Mutation System-PCR) with Vent DNA polymerase, we found that 9/28 (32%) of the tested beta-Thalassemia patients had the mutation at codon 17 and 4/28 (14%) at codon 41/42. This method can be applied for a rapid prenatal diagnosis of beta-Thalassemia disease and has public health significance.
