摘要
目的:了解湖北地区儿童地中海贫血(地贫)基因型的分布情况。方法:选取接受α、β地贫基因筛查后确诊为地贫的0~12岁患者,进行基因结果分析。结果:1 431例儿童标本中经基因确诊者有273例,其中189例为β-地贫,占69.23%,共检出10种突变基因,以CD41-42、IVS-Ⅱ-654及CD17为主,占突变的85.92%;78例为α-地贫,占28.57%,最常见的是α-SEA突变基因,占突变的72.84%;检出α-合并β-地贫6例,占2.20%。结论:湖北地区α-地贫以α-SEA突变为主,β-地贫排在前3位的基因突变分别是IVS-Ⅱ-654、CD41-42和CD17,α-合并β-地贫占地贫基因检出阳性病例的2.20%。本研究对湖北地区地贫基因型及其构成比进行分析,建立湖北地区地贫基因库,可以为预防计划和遗传咨询、产前诊断提供基础资料,从而对减少重型地贫患儿的出生具有重要意义。
Objective：To investigate the distribution of thalassemia genotype in children in Hubei province.Method：A genetic analysis was made from 0 to 12 years old thalassemia patients who had been accepted thalassemia genetic screening.Result：A total of 273 cases ofα-andβ-thalassemia were diagnosed from the 1 431 children.Among the 273 cases,189 wereβ-thalassemia,counting for 69.23%,and a total of 10 types of gene mutation were detected,the most common mutations were as follows：CD41-42,IVS-Ⅱ-654,CD17,they were counting for85.92% of the mutation.Seventy-eight cases wereα-thalassemia,counting for 28.57%,the most common mutation wasα-SEA,counting for 72.84% of the mutation.And there were only 6 cases withα-andβ-thalassemia,counting for 2.20%.Conclusion：In Hubei province,α-SEA gene mutation is the most common genotype inα-thalassemia,and CD41-42,IVS-Ⅱ-654,CD17 are the three most common genotype inβ-thalassemia,α-andβ-thalassemia patients counted for 2.20%in all thalassemia gene positive cases.The study analyses the thalassemia genotypes and constituent ratios and establish gene bank of thalassemia in Hubei province,provide basic data for thalassemia prevention program,genetic counseling and prenatal diagnosis in this area,accordingly help to avoid the birth of children with severe thalassemia.
出处
《临床血液学杂志》
CAS
2017年第6期850-852,共3页
Journal of Clinical Hematology
