湛江地区478例儿童地中海贫血基因检测及结果分析  

Gene detection and results analysis of 478 children with thalassemia in Zhanjiang area

作　　者：庞伟鸿[1] 陈晓煜 叶晓云[1] 李艳[1] 陈亚珍[1] PANG Weihong;CHEN Xiaoyu;YE Xiaoyun;LI Yan;CHEN Yazhen(Zhanjiang Central People’s Hospital,Guangdong,Zhanjiang 524045,China)

机构地区：[1]广东省湛江中心人民医院

出　　处：《中国医药科学》2019年第13期17-19,48,共4页China Medicine And Pharmacy

摘　　要：目的了解湛江地区儿童地中海贫血发生情况、基因类型及其频率,通过相应的措施,以减少中、重型地中海贫血患儿的出生。方法采用PCR+膜杂交法对478位受检者分别进行α-地中海贫血及β-地中海贫血基因检测。结果478位受检者经过基因检测确诊为地中海贫血280例,其中α-地中海贫血159例,β-地中海贫血107例,α-地中海贫血复合β-地中海贫血14例,还发现一例有巴氏综合征(胎儿水肿)。159例α-地中海贫血患者共检测出185个含有6种常见α-地中海贫血等位基因,携带率为38.70%,以-SEA基因为最多共111个,携带率为23.22%,构成比占60.00%。其次是-α3.7和-α4.2构成比分别为19.47%、9.73%。107例β-地中海贫血患者共检测出115个含有10种常见β-地中海贫血等位基因,携带率为24.06%,其中β41-42基因45例,携带率为9.41%,构成比占39.13%。其次是β654、β28和β17构成比分别为26.96%、13.04%、9.56%。结论基因检测技术可精准的检测出儿童地中海贫血的类型,初步了解了湛江地区儿童地中海贫血的基因突变普,为地中海贫血的诊断提供了科学的依据,更是促进了湛江地区地中海贫血的防治工作,对提高湛江地区得到人口质量有着重大的经济和社会效益。Objective To understand the occurrence,genotype and frequency of thalassemia in children in Zhanjiang area and to adopt corresponding measures to reduce the birth of children with moderate and severe thalassemia. Methods 478 subjects were tested for α-thalassemia and β-thalassemia by PCR combined with membrane hybridization. Results 280 out of 478 subjects were diagnosed as thalassemia by genetic testing,including 159 cases of α-thalassemia,107 cases of β-thalassemia,14 cases of α-thalassemia combined with β-thalassemia and 1 case of Barth syndrome(fetal hydrops).159 patients with α-thalassemia were detected to have 185 alleles containing 6 common α-thalassemia genes,with a carrying rate of 38.70%.The total number of -SEA genes was 111, and the carrying rate was 23.22%.The composition ratio was 60.00%.The composition ratios of -α3.7 and -α4.2 were 19.47% and 9.73%,respectively.In 107 patients with β-thalassemia,115 alleles containing 10 common β-thalassemia genes were detected,with a carrying rate of 24.06%.Among them,there were 45 cases of β41-42 gene with a carrying rate of 9.41%.The composition ratio was 39.13%.The composition ratios of β654,β28 and β17 were 26.96%,13.04% and 9.56%,respectively. Conclusion Gene detection technology can accurately detect the type of thalassemia in children.A preliminary understanding of the genetic mutation spectrum of children with thalassemia in Zhanjiang area provides a scientific basis for the diagnosis of thalassemia and promotes the prevention and treatment of thalassemia in Zhanjiang area.It has significant economic and social benefits for improving the population quality of Zhanjiang.

关 键 词：地中海贫血 基因检测技术 PCR+膜技术 基因类型 

分 类 号：R725.5[医药卫生—儿科]