摘要
目的探讨应用新生儿脐带血毛细管电泳技术筛查中国人常见α-地中海贫血。方法应用全自动毛细管电泳技术对6525例新生儿脐血进行血红蛋白定量分析,对Hb Bart's区带比值在0.1-2.5%的样本进行基因诊断。结果6525例新生儿脐血样本中,检出Hb Bart's阳性(0.1-2.5%)样本154例,其中共检测到Hb Constant Spring(CS)12例,Hb Quong Sze(QS)10例;新生儿人群中Hb CS基因携带率为0.2%,Hb QS基因携带率为0.15%。结论应用毛细管电泳技术对新生儿脐血进行筛查Hb CS和Hb QS具有可行性。
Objective： To screening the common nondeletional α - thalassemia in newborns in Guangzhou District. Methods ： Au- tomatic capillary electrophoresis （CE） was used to determinate Hb Bart＇s amount in cord blood of 6, 525 newborns. Samples with the presence of Hb Bart＇s（ at levels of 0. 1 -2. 5% ） were confirmed by molecular analysis. Results： Totally, 154 samples were found pos- itive for Hb Bart＇s; among these, 12 were found to be Hb Constant Spring （CS） carriers and 10 Hb Quong Sze （QS） carriers. The carrier rates of Hb CS and Hb QS were 0. 2 and 0. 15%, respectively, in this population. Conclusion： Our results have suggested that analysis of Hb Bart＇s using the capillary electrophoresis system could be a screening approach for nondeletional α - thal in newborns.
出处
《中国优生与遗传杂志》
2013年第5期20-21,共2页
Chinese Journal of Birth Health & Heredity
