Detection of Hb constant spring mutation by four of primers allele-specific PCR
- VernacularTitle:四引物等位特异性聚合酶链反应检测?2珠蛋白基因终止密码子突变
- Author:
Hongyi LI
;
Shan DUAN
;
Hui ZHENG
;
Zheng CHEN
;
Luming CHEN
- Publication Type:Journal Article
- Keywords:
?-thalassemia;
Polymerase chain reaction;
Nondeletion mutation
- From:
Chinese Journal of Laboratory Medicine
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To develop a rapid method based on ARMS, named four primers allele-specific PCR(4p-AS PCR), to detect the most common non-deletional ?-thalassemia mutation Hb Constant Spring(Hb CS) by PCR technique. Methods The 4p-ASPCR was used to detect the Hb CS mutation of ?-thalassemia in 38 DNA samples of Hb H disease patients and using PCR-RE and DNA sequencing to confirm the results. Results Among the 38 Hb H disease patients 15 cases was revealed to carry Hb CS, 16 cases were deletional Hb H, and 7 cases need to be defined.Conclusion A simple, rapid and reliable method, named 4P-ASPCR, to detect Hb CS mutation have been developed. It is also may be useful in screen other point mutations such as Hb Quong Sze.
