2018—2022年福建地区地中海贫血基因分型检测结果分析  

Analysis of genotyping results of thalassemia in Fujian, 2018-2022

作　　者：高晓晓 赵超逸 薛来玉 陶订熹 余高旺 GAO Xiaoxiao;ZHAO Chaoyi;XUE Laiyu;TAO Dingxi;YU Gaowang(Fuzhou Kingmed Medical Laboratory Co.,Ltd.,Fuzhou 350000,Fujian,China;School of Public Health,Fujian Medical University,Fuzhou 350122,Fujian,China)

机构地区：[1]福州金域医学检验实验室有限公司,福建福州350000 [2]福建医科大学公共卫生学院,福建福州350122

出　　处：《中国校医》2024年第12期933-938,共6页Chinese Journal of School Doctor

摘　　要：目的 分析2018—2022年福建地区α-地中海贫血(以下简称“α-地贫”)和β-地中海贫血(以下简称“β-地贫”)基因型和构成比,为制订地中海贫血(以下简称“地贫”)防控措施、产前诊断、婚前检查以及遗传咨询工作提供参考。方法 对2018年4月—2022年12月送检的12 680例地贫外周血样本,采用跨越断裂点聚合酶链式反应(Gap-PCR)技术检测3种缺失型α-地贫基因,采用PCR-反向点杂交(PCR-RDB)技术检测3种非缺失型α-地贫基因和17种β-地贫基因突变位点并分析检测结果。结果 12 680例样本检出3 499例(27.59%)为地贫基因携带者,共计57种基因型,其中α-地贫2 214例(17.46%)携带地贫基因,β-地贫1 215例(9.58%)携带地贫基因,α复合β-地贫70例(0.55%)携带地贫基因。57种地贫基因中α-缺失最多,共2 156例(61.62%),α-地贫中--SEA/αα是其中最主要的突变类型,共1 622例(73.26%)。β-地贫中βIVS-Ⅱ-654/βN是最主要的突变类型,共535例(44.03%)。α-地贫中间型检出59例(3.37%),β-地贫中间型和重型分别检出3例和2例。结论 福建地区人群地贫基因携带率较高,具有遗传多样性和异质性的特点,婚检和孕检时需重视对地贫基因的筛查。Objective The genotypes and composition ratio ofα-thalassemia andβ-thalassemia in Fujian Province from 2018 to 2022 were analyzed,to provide a reference for formulating prevention and control measures,prenatal diagnosis,premarital examination,and genetic counseling for thalassemia.Methods Peripheral blood samples from 12680 patients with thalassemia from April 2018 to December 2022 were examined.Three missing alpha-thalassemia genes were detected by cross-break polymerase chain reaction(Gap-PCR),and three non-missing alpha-thalassemia genes and 17β-thalassemia genes were detected by PCR-reverse dot hybridization(PCR-RDB).Results Among the 12680 samples,3499(27.59%)indicated thalassemia gene carriage,with a total of 57 genotypes,of which 2214(17.46%)indicated thalassemia gene carriage,1215(9.58%)indicatedβ-thalassemia gene carriage,and 70(0.55%)indicatedα-complexβ-thalassemia gene carriage.Moreover,α-deletions were the most common among the 57 thalassemia genotypes(2156 cases(61.62%)),andα-thalassemia medium--SEA/ααwas the most common mutation type(1622 cases(73.26%)).β-thalidomiaβIVS-II-654/βN was the most important mutation type and was observed in 535 cases(44.03%).A total of 59 cases(3.37%)ofα-thalassemia intermedia,three cases ofβ-thalassemia intermedia,and two cases of severeβ-thalassemia were detected.Conclusions The thalassemia gene carriage rate in the population of Fujian was high,and showed genetic diversity and heterogeneity.Greater attention should be paid to thalassemia screening during pre-marital and pregnancy examinations.

关 键 词：地中海贫血 基因突变 基因检测 基因分型 

分 类 号：R55[医药卫生—血液循环系统疾病]