应用高分辨熔解曲线分析方法检测β-地中海贫血纯合突变  

Detecting β-thalassemia Homozygous Mutations by High-resolution Melting Analysis

作　　者：欧展辉[1] 孙筱放[2] 

机构地区：[1]暨南大学第三附属医院产科,广东珠海519000 [2]广州医学院第三附属医院妇产科研究所,广东广州510150

出　　处：《中国产前诊断杂志（电子版）》2011年第3期15-18,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨高分辨熔解曲线分析方法(HRM)检测β-地中海贫血纯合突变的有效性。方法应用HRM方法对中国最常见的4种β-地中海贫血(4个IVS-Ⅱ-654即HBB:c.316-197C>T,3个Codons41/42即HBB:c.126_129delCTTT,1个Codon17即HBB:c.52A>T和4个-28即HBB:c.-78A>G)纯合突变进行检测,通过直接检测和与野生型标本混合后再检测2种方法检测。结果 HRM方法可以检测出中国常见的4种β-地中海贫血纯合突变。结论 HRM方法可以对中国常见的4种β-地中海贫血纯合突变进行检测,在产前诊断上有很好的应用前景。Objective To Detect β-thalassemia homozygous mutations by high-resolution melting analysis. Methods In this study, we used high-resolution melting (HRM) analysis to identify four kinds of most common β-thalassemia homozygous mutations in China. We also used homozygous mutations PCR product and wild-type product mixture to perform HRM analysis again. Results We successfully detected four kinds of common homozygous mutations samples (IVS-Ⅱ-654 (HBB:c.316-197C>T), Codons 41/42 (HBB:c.126_129 delCTTT), Codon 17 (HBB:c.52A>T) and -28 (HBB:c.-78A>G)). Conclusion Our results indicated that High-resolution melting analysis is a time saving and cost-effective technique. It can be used to identification of the commonest homozygous mutations. HRM will be a simple method to β-thalassemia prenatal diagnosis.

关 键 词：Β-地中海贫血 Β-珠蛋白 纯合突变 高分辨熔解曲线分析 熔解曲线 

分 类 号：R714.5[医药卫生—妇产科学]