广东中山地区β-地中海贫血基因突变类型分析

Analyzing of genic mutation types of β-thalassemia in Zhongshan area,Guangdong.

目的建立β-地中海贫血基因诊断方法并统计分析本地区β-地贫基因突变类型。方法应用双重PCR结合反向斑点杂交技术(reversedotblot),检测中国人8个常见及9个罕见β-地贫基因突变位点。结果1025例受检标本中,检出β-地贫基因突变209例,涉及11个基因突变位点。CD41-42(-TTCT)、IVS-Ⅱ-654(C→D)、nt-28(A→G)、CD17(A→G)、CD71-72、βE为本地区最常见的β-地贫基因突变位点,各占40·1%、22·9%、13·3%、12·4%、2·8%、2·4%,上述6种突变类型占所有检出突变位点的93·9%。结论PCR结合反向斑点杂交技术(PCR-RDB)是地β-地贫检测的有效方法。β-地贫基因突变类型分布存在区域差异。

Objective:To establish a useful genetic diagnosis method and investigate the types of gneic mutations for β-thalassemia in Zhongshan area .Methods:Samples were analyzed for 8 frequent genic mutation types and 9 infrequent types with PCR-RDB . Results: There were 209 cases of β-thalassemia out of 1025 individuals, 11 types of genic mutation were detected. CD_ 41-42(-TTCT),IVS_ -Ⅱ-654(C→D),nt-28(A→G),CD_ 17(A→G) ,CD_ 71-72,βE were the top 6 most frequent genic mutation types of β-thalassemia in zhongshan area ,the percentage is accordingly 40.1%,22.9%,13.3%,12.4%,2.8%,2.4%. accounted for 93.9% of total detected mutation types . Conclusion:PCR-RDB is a useful method in β-thalassemia analyzing.The types of genic mutation on β-thalassemia are different according regions.