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目的调查湖南地区育龄人群中β地中海贫血(β地贫)基因的突变类型及其构成比。方法采集血液学筛查阳性个体及其配偶样本,应用PCR结合反向斑点杂交法进行β地贫基因分析。结果在2610例检测对象中,1540例为β地贫基因杂合突变携带者。共检测到12种突变,其中以IVS-2-654(C-T)、CD41-42(-CTTT)和CD17(A-T)为最常见突变,上述3种突变类型占所有检出突变的84.73%。结论湖南地区β地贫基因突变构成比具有区域性特征,需在地贫的预防干预中应给予足够重视。
Objective To investigate the mutation types and their constituent ratios of β-thalassemia gene in the reproductive-aged population in Hunan province. Methods The hematological screening positive individuals and their spouses were collected. The β-thalassemia gene was analyzed by PCR combined with reverse dot blot hybridization. Results Of the 2610 subjects tested, 1540 were carriers of heterozygous mutations in the beta thalassemia gene. A total of 12 mutations were detected. Among them, IVS-2-654 (C-T), CD41-42 (-CTTT) and CD17 (A-T) were the most common mutations, accounting for 84.73% of all the detected mutations. Conclusions Hunan Province has a regional characteristic of β-thalassemia mutation, and should be given sufficient attention in prevention and treatment of thalassemia.