【摘要】 目的建立Taqman-MGB探针法对α地中海贫血Hb Westmead突变进行检测,了解在广西地区平均红细胞体积在70～80fL患者的Hb Westmead突变基因携带情况。方法对200例入选患者进行Taqman-MGB探针法检测Hb Westmead突变,并用基因测序法进行验证。结果共检测出12例Hb Westmead突变基因携带者,Taqman-MGB探针法检测结果和基因测序法检测结果相符。结论 Taqman-MGB探针法可快速、简便检测Hb Westmead突变,特异性高,结果可靠。广西地区的HbWestmead突变有较高的发生率。更多还原

【Abstract】 Objective To establish a detection methods by Taqman-MGB probe,which can detect mutation of Hb Westmead,and understand the mutant gene carrying at Hb Westmead patients whose mean corpuscular volume in the 70-80 fL rang in the Guangxi region.Methods 200 cases of selected patients were detected by Taqman-MGB probe at Hb Westmead mutation,and verified by gene sequencing.Results A total of 12 cases of Hb at Westmead mutation carriers were found,the Taqman-MGB probe assay results is match with gene sequencing assay results.Conclusion The Taqman-MGB probe is a quick,specificity,easy and reliable detection method at Hb Westmead mutations.There have a higher incidence of Westmead mutation in Guangxi region.更多还原