现代检验医学杂志2012，Vol.27Issue(1)：88-89,93,3.DOI:10.3969/j.issn.1671-7414.2012.01.027
全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用评价
Application of Full Automated Capillary Electrophoresis System in the Analysis of Thalassemia
万志丹 1黄湘 1吴学威 1李冬秀 1郑国兵 1姚英姿 1梁睿1
作者信息
- 1. 南方医科大学附属中山博爱医院产前诊断中心,广东中山528402
- 折叠
摘要
Abstract
Objective To assess capillary electrophoresis system in the analysis of Thalassemia. Methods Using France Sebia company Capillary 2 automatic capillary electrophoresis instrument analysis 18 003 cases of adult hemoglobin electrophoresis, detection of HbA,HbF,HbA2 and abnormal hemoglobin content,the positive phenotypes cases were recalled for genetic analysis. Results 18 003 cases of adult specimens for alpha thalassemia phenotype was positive in 2 226 cases, screening positive rate 12. 36%. Recalled of 1 070 for gene detection,626 patients for alpha globin gene deletion,with coincidence rate 58. 50%. Beta thalassemia phenotype was positive in 1 329 cases,screening positive rate 7. 38%. Recalled of 733 for gene detection, 710 patients for beta globin gene mutation, with coincidence rate 96. 86%. Conclusion Automatic capillary electrophoresis as a new type of liquid phase separation technology,has the advantages of fast speed,high sensitivity,high resolution, accurate positioning and quantitative HbA2 content, Preliminary distinguish between alpha, beta thalassemia, effective screening in high risk patients,for thalassemia screening and diagnosis to provide fast and accurate diagnosis.关键词
全自动毛细管电泳/珠蛋白生成障碍性贫血/基因/符合率Key words
automated capillary electrophoresis(CE)/thalassemia/ gene/coincidence rate分类
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万志丹,黄湘,吴学威,李冬秀,郑国兵,姚英姿,梁睿..全自动毛细管电泳仪在成人珠蛋白生成障碍性贫血筛查中的应用评价[J].现代检验医学杂志,2012,27(1):88-89,93,3.
