东莞地区新生儿α-地中海贫血的PCR筛查  

PCR-based screen for alpha-thalassemia in Dongguan newborns

作　　者：侯智勇[1] 戴海燕[1] 黄潭芳[1] 张爱思[1] 朱晓燕[1] 曾梅[1] 

机构地区：[1]东莞市人民医院妇产科,521008

出　　处：《中国优生与遗传杂志》2003年第5期106-106,94,共2页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科学技术研究基金课题;项目编号 :A19995 97

摘　　要：目的　了解东莞地区新生儿α-地中海贫血发病率。方法　利用PCR法对 1378例新生儿脐血 ,进行α -地中海贫血的筛查。结果　 1378例脐血筛查中 ,有 36例为右侧缺失杂合子 (-αα3 .7/αα) ,9例为左侧缺失杂合子 (-αα4.2 /αα) ,发病率分别为 2 .6 1%和 0 .6 5 %。结论　该法快速、准确 ,可作为常规方法用于临床样品的分子筛查。Objective: To understands the incidence rates of alpha-thalassemia in Dongguan newborns. Methods: Using PCR-based method to screen alpha-thalassemia genotypes in 1378 newborns in Dongguan. Results of 1378 newborns, the αα 3.7/αα-thalassemia was detected in 36(2.61%) of the newborns, αα 4.2/αα-thalassemia in 9(0.65%) cases. Conclusion: This detection method is rapid and accurate, it can be used as a routinemethod for carrier detection.

关 键 词：Α-地中海贫血 聚合酶链反应 新生儿筛查 基因 

分 类 号：R722.1[医药卫生—儿科]