高分辨熔解曲线技术快速筛查SLC4A1基因c．166A〉G突变  

Rapid screening of c.166A〉G in SLC4A1 gene by high-resolution melting analysis

作　　者：何本进 马诗玥 廖林[1] 林发全[1] He Benjin, Ma Shiyue, Liao Lin, Lin Faquan(Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University , Nanning 530021, Chin)

机构地区：[1]广西医科大学第一附属医院检验科,南宁530021

出　　处：《中华检验医学杂志》2018年第5期370-373,共4页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金（81360263）

摘　　要：目的 探讨高分辨熔解曲线（HRM）技术对SLC4A1基因进行突变筛查的可行性.方法 选用DNA测序确认为c.166A〉G（p.Lys56Glu）杂合突变的2例遗传性球形红细胞增多症（HS）和30份健康体检者标本,使用Primer Premier 6.0软件设计相应的HRM引物,在LightCycler 480中进行检测和HRM分析.结果 应用HRM法能有效检测出2例HS的SLC4A1基因c.166A〉G杂合突变,且其检测的特异度与敏感度皆为100%.结论 HRM技术能对SLC4A1基因c.166A〉G进行突变筛查,为一种高效、准确和低成本的分子诊断方法.Objective To explore the feasibility of a high-resolution melting（HRM）method for rapid screening of SLC4A1 mutation.Methods Two hereditary spherocytosis（HS）with a c.166A 〉G heterozygous mutation of SLC4A1 confirmed by DNA sequencing and thirty healthy controls were selected for the study.The HRM primer was designed by Primer Premier 6.0 software.All of these samples were detected by LightCycler 480 and analyzed by HRM.Results The HRM analysis was able to detect the c.166A〉G heterozygous mutation of SLC4A1 effectively, and the specificity and sensitivity were both 100%.Conclusions The HRM analysis was appropriate for the detection of c.166A〉G in SLC4A1.It was an efficient,accurate and cost-effective molecular diagnosis method.

关 键 词：球形红细胞增多 遗传性 阴离子交换蛋白1 红细胞 高分辨率熔解曲线 

分 类 号：R556.6[医药卫生—血液循环系统疾病]