Application of high resolution melting curve analysis technique in detection ofβ-thalassemia gene mutations
10.3969/j.issn.1673-4130.2015.05.032
- VernacularTitle:应用高分辨熔解曲线分析技术检测β-地中海贫血基因突变
- Author:
Jingjing WANG
;
Zhaoxu XU
;
Hongbo PENG
- Publication Type:Journal Article
- Keywords:
β-thalassemia;
gene mutations;
high-resolution melting curve
- From:
International Journal of Laboratory Medicine
2015;(5):650-651,654
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the feasibility of high resolution melting(HRM)curve analysis technique for detecting β-thalassemia gene mutations.Methods The HRM method was used to detect five kinds of common β-thalassemia mutations (-28, CD17,CD41-42,CD71-72 and IVS-2-654)in Guangdong province.Sixty specimens of the patients with suspectedβ-thalassemia were performed the HRM analysis.The results of HRM analysis were confirmed by the direct DNA sequencing.Results Among 60 specimens of the patients with suspectedβ-thalassemia,12 cases of heterozygosis mutant gene were detected,including 3 cases of-28,2 cases of CD17,5 cases of CD41-42,2 cases of CD71-72 and 2 cases of IVS-2-654 gene mutation;2 cases of homozygosis mu-tant gene were detected,including 1 case of-28 and 1 case of CD41-42 homozygous mutation (both were amniotic fluid specimens). The results of HRM analysis were consistent with the DNA sequencing results.Conclusion The HRM method can accurately de-tect five kinds of common β-thalassemia mutations in Guangdong province,has the advantages of simpleness,rapidness and high sensitivity and is expected to be a new method for screening β-thalassemia mutation in clinic.
