贵州省部分地区不同民族育龄人群地中海贫血基因检测结果分析研究  

Analysis of gene detection results of thalassemia in reproductive age population of different ethnic groups in some areas of Guizhou province

作　　者：朱晓西[1,2] 杨雪 李广萍[1] 唐黛丽[1] 刘美 金亚清[1] 王碧[2] 禹文峰[2,3,4] ZHU Xiaoxi;YANG Xue;LI Guangping;TANG Daili;LIU Mei;JIN Yaqing;WANG Bi;YU Wenfeng(Guiyang Maternal and Child Health Care Hospital,Guiyang,Guizhou 550003,China;Key Laboratory of Molecular Biology of Guizhou Medical University,Guiyang,Guizhou 550004,China;Education Ministry Key Laboratory of Endemic and Minority Diseases of Guizhou Medical University,Guiyang,Guizhou 550004,China;School of Basic Medical Science of Guizhou Medical University,Guiyang,Guizhou 550004,China)

机构地区：[1]贵阳市妇幼保健院,贵州贵阳550003 [2]贵州医科大学分子生物学重点实验室,贵州贵阳550004 [3]贵州医科大学地方病与少数民族疾病教育部重点实验室,贵州贵阳550004 [4]贵州医科大学基础医学院,贵州贵阳550004

出　　处：《中国优生与遗传杂志》2021年第9期1235-1241,共7页Chinese Journal of Birth Health & Heredity

基　　金：贵阳市卫生和计划生育委员会“高层次创新型青年卫生人才培养计划项目”([2018]筑卫计科技合同字第020号)。

摘　　要：目的分析贵州省部分地区不同民族育龄人群地中海贫血(简称地贫)基因类型携带情况,为各地区地贫预防和诊断提供参考依据。方法选取2016年1月到2019年4月于贵阳市妇幼保健院进行地贫基因检测的贵州省部分地区不同民族育龄人群样本,共27112例,进行血常规检测和(或)血红蛋白电泳分析,初筛阳性样本进行地贫基因检测,表型阳性而未检出中国人已知突变基因型的样本进一步进行地贫基因测序分析。结果 27112例送检标本中,经血常规和(或)血红蛋白电泳分析共检出阳性样本9912例,总地贫筛查阳性率为36.56%;地贫筛查表型阳性样本经PCR结合反向点杂交(RDB)法检测,共检出4090例阳性,总地贫基因检出率为41.26%;地贫基因阳性样本中α-地贫基因携带者共计1892例,共有22种突变类型,主要以SEA杂合子、3.7杂合子和4.2杂合子为主,总突变率占83.03%,汉族与其他少数民族α-地贫基因型分布情况大致相同;地贫基因阳性样本中β-地贫基因携带者共计2052例,共有18种突变类型,主要以β17杂合子、β41-42杂合子和β654杂合子为主,总突变率占92.99%;地贫基因阳性样本中αβ-地贫基因携带者共计146例,共检出19种基因类型;9912例阳性结果中夫妇为同型地贫共127例,产前地贫基因检出中间型α-地贫11例,重型α-地贫5例,重型β-地贫9例,中重型或重型αβ-地贫3例,产前诊断阳性率为22.05%。结论贵州省部分地区不同民族育龄人群地贫基因型分布具有民族性和区域性等特点,初步了解贵州部分少数民族的地贫基因携带情况,有助于对该民族地贫危害性进行评估,为有效防控地贫提供基础数据。Objective To analyze the carriage of thalassemia gene types in different ethnic groups of reproductive age in some areas of Guizhou Province and provide a reference basis for the prevention and diagnosis of thalassemia in various areas. Methods A total of 27112 samples from patients of childbearing age of different nationalities in some areas of Guizhou Province who underwent thalassemia gene detection in Guiyang Maternity and Child Health Care Hospital from January 2016 to April 2019 were selected for blood routine detection and/or hemoglobin electrophoresis analysis. The positive samples were initially screened for thalassemia gene detection. The samples with positive phenotype but no known mutation genotype of Chinese were further analyzed by thalassemia gene sequencing. Results Of the 27112 submitted samples, a total of 9912 positive samples were detected by blood routine and/or hemoglobin electrophoresis, and the positive rate of total thalassemia screening was 36.56%;4090 positive samples were detected by PCR combined with reverse dot blot(RDB), and the detection rate of total thalassemia gene was 41.26%;1892 α-thalassemia gene carriers were detected in thalassemia gene-positive samples, with a total of 22 mutation types, mainly SEA heterozygotes, 3.7 heterozygotes and 4.2 heterozygotes, with a total mutation rate of 83.03%, and the distribution of α-thalassemia genotypes was approximately the same in Han and other ethnic minorities;2052 β-thalassemia gene carriers were detected in thalassemia gene-positive samples, with a total of 18 mutation types, mainly β17 heterozygotes, β41-42 heterozygotes and β654 heterozygotes, with a total mutation rate of 92.99%;146αβ-thalassemia gene carriers were detected in thalassemia gene-positive samples, with a total of 19 positive results;Among 9912 positive cases, 127 couples were homotypic thalassemia. Prenatal thalassemia gene detected 11 cases of α-thalassemia intermedia, 5 cases of α-thalassemia major, 9 cases of β-thalassemia major, and 3 cases of moderat

关 键 词：地中海贫血 基因检测 育龄人群 贵州少数民族 

分 类 号：R556.61[医药卫生—血液循环系统疾病]