湖南地区地中海贫血基因检测结果及突变类型分析

Analysis of gene mutation types of thalassemia in Hunan region

目的了解湖南地区人群α和β地中海贫血的基因类型、构成比及区域分布情况。方法通过α和β地中海贫血基因检测试剂盒来检测α地贫缺失基因和β地贫突变基因,并对检测结果进行统计分析。结果检出7种α地贫基因缺失类型,以--^(SEA)/αα(71.88%)和-α^(3.7)/αα(20.07%)最为突出。6984例标本中,检出1366例β地贫(包括13种β地贫突变基因),3种常见的类型分别是CD41-42(35.94%)、IVS-II-654(31.24%)和CD17(16.76%)。结论本研究展示了湖南地区地贫分布情况,可为本地区开展地贫遗传咨询和预防提供参考。

Objective：To study the gene mutation type, constituent ration and distribution of thalassemia in Hunan region. Method：The thalassemia gene detection kit was used for genetic diagnosis of alpha and beta thalassemia genotype,and the detection results were analyzed by statistical methods. Results：There were 7 different genotypes of α-thalassemia.--^SEA/ααand-α^3.7/αα were the most common genotype,accounting for 71.88% and 20.07%,respectively. Among the 1366 β-thalassemia patients,including 13 kinds of beta globin genotype,the first three high frequency of β-thalassemia were CD41-42（35.94%）,IVS-II-654（31.24%） and CD17（16.76%）. Conclusions：This study showed the distribution features of genetic mutation of thalassemia,which may provide a valuable reference for taking effective measures to prevent and consult thalassemia.