Shih Hung-Chang, Er Tze-Kiong, Chang Tien-Jye, Chang Ya-Sian, Liu Ta-Chih, Chang Jan-Gowth
Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Clin Biochem. 2009 Nov;42(16-17):1667-76. doi: 10.1016/j.clinbiochem.2009.07.017. Epub 2009 Jul 23.
This study was undertaken to identify HBB gene mutation.
Herein we evaluated high-resolution melting analysis in the identification of HBB mutations.
We have successfully established a diagnostic strategy for identifying HBB gene mutations including c.-78A>G, c.-79A>G, c.2T>G, c.79_80insT, c.84_85insC, c.123_124insT, c.125_128delTCTT, c.130 G>T, c.170G>A, c.216_217ins A and c.316-197 C>T from wild-type DNA using HRM analysis. The results of HRM analysis were confirmed by direct DNA sequencing.
In summary, we report that HRM analysis is an appealing technique for the identification of HBB mutations. We also believe that HRM can be used as a method for prenatal diagnosis of beta-thalassemia.
本研究旨在鉴定HBB基因突变。
在此我们评估了高分辨率熔解分析在鉴定HBB突变中的应用。
我们已成功建立了一种诊断策略，用于从野生型DNA中鉴定HBB基因突变，包括c.-78A>G、c.-79A>G、c.2T>G、c.79_80insT、c.84_85insC、c.123_124insT、c.125_128delTCTT、c.130 G>T、c.170G>A、c.216_217ins A和c.316-197 C>T，采用高分辨率熔解分析（HRM分析）。HRM分析结果通过直接DNA测序得以证实。
总之，我们报道高分辨率熔解分析是一种用于鉴定HBB突变的有吸引力的技术。我们还认为高分辨率熔解分析可作为β地中海贫血产前诊断的一种方法。
