黎族人群地中海贫血基因筛查方法的探讨  

Investigation into the methods of screening thalassemia gene in LI Nationality population in Hainan.

作　　者：郑诗华[1] 区采莹[1] 蒙晶[1] 李冬娜[1] 

机构地区：[1]海南医学院附属医院儿科,海南海口570102

出　　处：《中国热带医学》2006年第9期1570-1570,1598,共2页China Tropical Medicine

摘　　要：目的寻找一种用于群体筛查地中海贫血基因的方法。方法用多重PCR技术,一次反应筛出β-地中海贫血携带者(β°CD41/42)及α2基因缺失的携带者。结果在1207例黎族群体中筛出β°CD41/42(-TCTT)地贫携带者123例(占10%)。筛出α2基因全缺失212例(其中HbH病3例)。结论本法适合于黎族人群地中海贫血基因的筛查。Objective To find a method that can be used for massively screening of thalassemia gene Li Nationality community, Methods Multiplex - PCR was used for screening β - thalassemia carriers β°CD41/42） and the a2 gene deficient carriers in a single reaction. Results Out of the 1 207 Li Nationality samples 123 thalassemia carriers （accounted for 10% ） and 212 complete a2 gene deficient carriers （including 3 HbH disease patients） were detected. Conclusion The method is suitable for scredning thalassemia gene carriers in Li Nationality population.

关 键 词：地中海贫血 多重PCR 筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]