Analysis of β-globin gene mutation in β-thalassemia in Han population of Wenzhou region
10.3760/cma.j.issn.1009-9158.2010.03.009
- VernacularTitle:温州地区汉族人群β地中海贫血患者β珠蛋白基因突变分析
- Author:
Meiqin ZHENG
;
Wei LI
;
Jianxin Lü
- Publication Type:Journal Article
- Keywords:
β-Thalassemia;
Globins;
Mutation;
Sequence analysis,DNA
- From:
Chinese Journal of Laboratory Medicine
2010;33(3):236-240
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analysis the β-globin gene mutation in β-thalassemia in the population of Wenzhou natives,and identify the major mutation in Wenzhou and further provide valuable information for genetic counseling,prenatal diagnosis and prevention programs in this region.Methods Patients with β-thalassemia were diagnosed and the genomics DNA were extracted from whole blood cells and amplified with PCR,sequenced and compared to the standard sequence.Some mutations were further identified by subcloned.Results 44 of 66 patients were diagnosed β-Thalassemia,9 mutations were found in the 44 sporadic patients with the sequence analysis,2 of which were known polymorphisms(exonl 59,IVS-2-665),3 belonged to the common mutations in Chinese(IVS-2-654,CD_(41/42)-TTCT and TATA box nt-28),2 were scarce abnormalities(CD_(47),CD_(66))and 2 novel variants(-24T→C,CD_(26A)→G,same sense mutation,unreported).Conclusion The mutations of β-globin gene in Han Chinese in Wenzhou are complex (9 mutations found in all),the rare and novel mutations are identified,which provide the valuable information for genetic counseling in Wenzhou.
