摘要
目的探讨高分辨率熔解曲线法(HRM)检测中国5种常见β-地中海贫血突变的可行性。方法应用HRM法检测中国5种常见β-地中海贫血突变,检测结果为纯合子的标本进行基因测序验证。结果 HRM法能准确区分-28(c.-78A>G)、Codon17(c.52A>T)、Codons41/42(c.126_129delCTTT)、Codons71/72(c.216_217insA)及IVS-Ⅱ-654(c.316_197C>T)的纯合、杂合突变以及野生型标本,测序结果与HRM法检测结果一致。结论 HRM法检测中国5种常见β-地中海贫血突变具有简便、快速、灵敏度高等优点,有望成为临床尤其是产前诊断领域β-地中海贫血突变筛查的优选方法。
Objective To detect five kinds of common β-thalassemia mutations by high-resolution melting （HRM） analysis in China. Methods In this study,we used HRM analysis to identify five kinds of common β-thalassemia mutations in China. The homozygous mutations detected in HRM analysis were verified by DNA sequencing. Results Five kinds of common β-thalassemia mutations were accurately distinguished from homozygote,heterozygote and wild type by HRM analysis, including-28 （ c.-78A 〉 G ）, Codon 17 （ c. 52A 〉T ）, Codon s41/42 （ c. 126_ 129del CTIT ）, C odons71/72 （ c. 216_217insA ） and IVS-II-654 （c.316_197C〉T）. The results of DNA sequencing were consistent with the detection of HRM analysis. Conclusion HRM analysis is a simple, accurate and sensitive approach for detecting five kinds of common β-thalassemia mutations in China and it could be used as an optimized method for screening β-thalassemia mutation in clinical field especially in prenatal diagnosis.
出处
《热带医学杂志》
CAS
2013年第5期602-605,627,共5页
Journal of Tropical Medicine
基金
广东省科技计划项目(2010B031600120)
