摘要
目的:验证高分辨率熔解曲线分析技术(HRM技术)用于筛查非缺失型α-地中海贫血的可行性。方法:应用全自动毛细管电泳技术对6 525例新生儿脐血进行血红蛋白定量分析,将Hb Bart's含量在0.1%～2.5%的样本挑出,排除3种常见缺失型α-地贫基因(--SEA、-α3.7、-α4.2)后剩下的样本,用HRM技术分别对α-基因的3个外显子进行扫描后对这些样本进行基因确诊。结果:所有28例非缺失型α-地中海贫血全部被检出。结论:HRM技术可作为非缺失型α-地中海贫血的一种筛查方法,且具有准确、高效、低成本的优点。
Objective： To confirm the feasibility of high - resolution melting curve analytical technique for screening of non - de- letional α - thalassemia. Methods： Automatic capillary electrophoresis was used for quantitative analysis of hemoglobin in umbilical cord blood samples of 6 525 neonates, the samples with Hb Bartg within 0. 1% -2. 5% were picked out, then the samples with three common genes of deletional α - thalassemia （ - - SEA, -α3.7 , _ α4.2 ） were excluded, genetic diagnosis was conducted after scanning three exons of ct gene in the residual samples with high - resolution melting curve analytical technique. Results ： All the 28 neonates with non - deletional α - thalassemia were successfully detected. Conclusion： High - resolution melting curve analytical technique can be used as a screening method for non - deletional α - thalassemia, which has the advantages of accuracy, high efficacy, and low cost.
出处
《中国妇幼保健》
CAS
北大核心
2013年第1期156-159,共4页
Maternal and Child Health Care of China
