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α 2 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α 2 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。

    关键词:地中海贫血;多重PCR;筛查

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

    ZHENG Shi-hua，OU Cai-ying，MENG Jing，et al.

    (Affiliated Hospital of Hainan Medical College，Haikou570102，Hainan，P.R.China)

    Abstract:Objective To find a method that can be used for massively screening of thalassemia gene Li Nationality community. Methods Multiplex-PCR was used for screeningβ-thalassemia carriersβ°CD41/42)and theα 2 gene deficient carriers in a sin-gle reaction. Results Out of the1207Li Nationality samples123thalassemia carriers(accounted for10%)and212completeα 2 gene deficient carriers(including3HbH disease patients)were detected. Conclusion The method is suitable for scredning tha-lassemia gene carriers in Li Nationality population.

    Key words:Thalassemia;Multiplex-PCR;Screening

    地中海贫血是我国南方常见的一种遗传性血液病 ......