摘要
目的了解浙西南地区β地中海贫血基因突变的类型。方法对经过初筛的患者用反向点杂交法确定基因突变类型。结果在本地区共检出五种基因突变类型,分别为β珠蛋白基因IVS—2nt654(C→T)突变,占40%;CD41-42(-TCTT)突变,占36%;CD17(A→T)突变,占16%;TATAboxnt–28(A→G)突变,占4%;CD27-28(+C)突变,占4%。结论本研究结果对本地区开展β地中海贫血基因分析、婚前指导、遗传咨询和产前诊断具有重要意义。
Objective To acknowledge the gene mutation types of β mediterranean anemia in Lishui area of Zhejiang province. Method The type of gene mutation was determined by reverse dot hybridization in patients screened initially. Results 5 types of gene mutation were detected in our district, including 40% of β globin gene IVS-2nt 654（C→T） mutation, 36% of CD41-42（-TCTT） mutation, 16% of CD17（A→T） mutation, 4% of TATA box nt-28（A→G） mutation and 4% of CD27-28（＋C） mutation. Conclusion This research resuh has important significance to the education before marriage, descend consulation and antepartum diagnosis of β mediterranean anemia.
出处
《江西医学检验》
2005年第6期508-508,502,共2页
Jiangxi Journal of Medical Laboratory Sciences
基金
温州医学院科研发展基金项目(WY04K021)
关键词
Β地中海贫血
基因突变
反向点杂交
基因诊断
β mediterranean anemia
Gene mutation
Reverse dot hybridization
Gene diagnosis
作者简介
丁友法，男，1963年生，主管技师，主要从事临床分子生物学研究。
