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目的:研究海南省黎族人群β-地中海贫血IVSII654(C→T)突变的发病率。方法:应用等位基因特异性聚合酶链反应(PCR)技术筛查海南省白沙、昌江、陵水、琼中、保亭等县黎族人群中β-地中海贫血IVSII654(C→T)突变。结果:共筛查了788例黎族人DNA标本,未发现β-地中海贫血IVSII654(C→T)突变。结论:IVSII654(C→T)突变不是海南省黎族人群中主要的β-地中海贫血的基因类型。
Objective: To investigate the incidence of β-thalassemia IVSII654 (C → T) mutation in Li nationality in Hainan Province. Methods: Allele-specific polymerase chain reaction (PCR) was used to screen for the mutation of β-thalassemia IVSII654 (C → T) in Li population of Baisha, Changjiang, Lingshui, Qiongzhong and Baoting in Hainan Province. Results: A total of 788 DNA samples of Li people were screened, and no mutation of IVSII654 (C → T) in β-thalassemia was found. Conclusion: The mutation of IVSII654 (C → T) is not the major β-thalassemia gene in Hainan Province.