江西地区β地中海贫血基因突变类型的分析

Analysis on gene mutations of β-thalassemia in Jiangxi area

目的 探讨江西地区 β地中海贫血基因突变类型及其频率。方法 应用聚合酶链反应结合反向点杂交技术分析了 35例重型β地贫患儿及双亲 136条染色体的β珠蛋白基因。结果 检测到 6种突变类型 :IVS2nt- 6 5 4 (C→T)、CD4 1- 4 2 (-TCTT)、CD17(A→T)、TATAbox - 2 8(A→G)、CD2 7- 2 8(+C)、CD71- 72 (+A)。结构比依次为 0 3917、0 2 794、 0 12 5、 0 1176、 0 0 5 15、 0 0 2 94。结论 研究结果对在该地区开展遗传咨询、基因分析及产前诊断具有重要意义。

To study the types and frequency of gene mutations of β-thalassemia in Jiangxi area.Methods: To analyze β-globin genes of 136 chromosomes of 35 cases with severe β-thalassemia and their parents with the technique of PCR combined reverse dot blot(RDB).Results: 6 types of mutation were identified:IVS2nt-654((C→T),CD41-42(-TCTT),CD17(A→T),TATA box-28(A→G),CD71-72(+A),CD27-28(+C),CD71-72(+A),composed rate are 0 3971,0 2794,0 125,0 1176,0 0515,0 0294.Conclusions: The study results are significant for developing hevedisy consult,gene analysis and prenatal diagnosis in this area.