摘要
目的 :研究海南省黎族人群的 β 地中海贫血的分子基础。方法 :应用等位基因特异性聚合酶链反应 (PCR)技术筛查海南省白沙县黎族人群中的4种 β 地中海贫血突变类型 :CD41-42(-CTTT)缺失突变、CD17A→T无义突变、TATA盒nt-28A→G突变和CD71 -72(+A)移码突变。结果 :在321人中发现36例CD41-42(-CTTT)缺失突变杂合子携带者 ,携带率为11.21 % ,未发现其它3种突变类型。结论 :在海南省白沙县黎族人群中β 地中海贫血的基因类型主要为CD41-42(-CTTT)
Objective: To investigate the molecular basis of β-thalassemia mutation in Li nationality of Hainan province. Method: Allele-specific polymerase chain reaction(PCR) was used to detect CD41-42 (-CTTT), CD 17A→T, TATA box nt-28A→G and CD71-72 (+A) mutations in Li nationality of Hainan province. Results: The 36 out of 321 people were found to be the carriers of CD41-42 (-CTTT), and the carrying rate was 11.2%; no carrier of other three types of mutations was found. Conclusion: The CD41-42 (-CTTT) was the main type of β-thalassemia in Li nationality of Hainan province.
出处
《海南医学院学报》
CAS
2001年第1期4-7,共4页
Journal of Hainan Medical University
基金
海南省教育厅资助课题!(No.28)
