广西来宾市育龄人群珠蛋白生成障碍性贫血基因检测结果分析  

Analysis of Gene Testing Results for Thalassemia in Childbearing-Age Population of Laibin City,Guangxi

作　　者：黄媛媛 叶丽花 黄俊 蒋爱琼 梁乔慧 沈雪莲 李友琼[3] HUANG Yuanyuan;YE Lihua;HUANG Jun;JIANG Aiqiong;LIANG Qiaohui;SHEN Xuelian;LI Youqiong(Department of Medical Genetics,Liuzhou Maternal and Children Healthcare Hospital,Guangxi Liuzhou 545001,China;Department of Clinical Laboratory,Laibin Maternal and Child Health Hospital,Guangxi Laibin 546100,China;Center for Medical Genetics and Prenatal Diagnosis,the People’s Hospital of Guangxi Zhuang Autonomous Region,Nanning 530021,China)

机构地区：[1]柳州市妇幼保健院医学遗传科,广西柳州545001 [2]来宾市妇幼保健院检验科,广西来宾546100 [3]广西壮族自治区人民医院医学遗传与产前诊断中心,南宁530021

出　　处：《现代检验医学杂志》2024年第2期96-102,共7页Journal of Modern Laboratory Medicine

基　　金：广西壮族自治区来宾市科技计划项目资助(来科转202417):来宾市辖区各民族育龄人群地中海贫血基因谱的创立;(来科转220831):来宾地区血红蛋白A2筛查地中海贫血截断值的探讨。

摘　　要：目的探讨珠蛋白生成障碍性贫血基因在广西来宾市本地人群的携带率,为来宾市珠蛋白生成障碍性贫血防控工作提供理论依据。方法采用血细胞检测和血红蛋白电泳联合测定对2020年1月~2021年12月在广西来宾市四县一市一区妇幼医院门诊就诊的88152例样本进行珠蛋白生成障碍性贫血筛查,采用多重裂口PCR(gap polymerase chain reaction,Gap-PCR)和反向斑点杂交(reverse dot blot,RBD)等技术,对初筛阳性者进行常见型和罕见型基因检测,并对检测结果进行统计学分析。结果①22553例初筛呈阳性,其中8327例初筛阳性者接受基因诊断,共检出4944例珠蛋白生成障碍性贫血基因携带者,推导出该地区育龄人群总携带率为15.19%,其中α-为3200例(64.73%),β-为1424例(28.80%),αβ复合型为320例(6.47%)。②α-珠蛋白生成障碍性贫血基因携带者中,常见型为3168例(99.00%),罕见型32例(1.00%),共检出13种突变基因和34种基因型,基因型--^(SEA)/αα排在首位。③β-珠蛋白生成障碍性贫血基因携带者中,常见型为1411例(99.09%),罕见型13例(0.91%),共检出19种突变基因和25种基因型,以CD41-42(-CTTT)最为常见。④αβ复合型携带者中共检出53种不同基因型,排在首位的是--^(SEA)/ααβ^(CD41-42M)/β^(N)。⑤瑶族与汉族携带率相当,差异无统计学意义(χ^(2)=0.300,P=0.584),壮族与瑶族、壮族与汉族比较,差异具有统计学意义(χ^(2)=23.66,116.98,均P<0.001)。⑥象州县携带率最高(20.04%),合山市携带率最低(12.38%)。⑦女性携带率(16.56%)高于男性(13.32%),差异有统计学意义(χ^(2)=182.03,P<0.001)。结论来宾地区珠蛋白生成障碍性贫血变异基因类型复杂,该研究首次调查珠蛋白生成障碍性贫血基因在来宾地区人群中的携带率和基因突变谱,为该地区遗传咨询和产前诊断提供了有价值的基线数据。Objective To explore the carrier rate of thalassemia in Laibin city,Guangxi Province,and provide a theoretical basis for the prevention and control of thalassemia.Methods From January 2020 to December 2021,88152 patients were screened for thalassemia in the outpatient department of the Women’s and Children’s Hospital of 4 counties,1 city and 1 district in Laibin by blood cell detection and hemoglobin electrophoresis.The common and rare genes in initially screened positive individuals were detected by gap polymerase chain reaction(Gap-PCR)and reverse dot blot(RBD),and the results were conducted by statistical analysis.Results①There were 22553 positive cases in the preliminary screening and 8327 positive cases received the diagnosis of thalassemia gene.A total of 4944 thalassemia carriers of thalassemia genes were detected,deducing that the total thalassemia carrier rate in the population of childbearing age in this region was 15.19%,including 3200 cases ofα-thalassemia carriers(64.73%),1424 cases ofβ-thalassemia carriers(28.80%),and 320 cases of were carriersα-thalassemia combined withβ-thalassemia(6.47%).②There were 3168 cases of common thalassemia(99.00%)and 32 cases of rare thalassemia(1.00%)amongα-thalassemia gene carriers.A total of 13 mutant genes and 34 genotypes were detected,and genotype ^(SEA)/ααwas the comes first.③Among theβ-thalassemia gene carriers,there were 1411 cases of(99.09%)common thalassemia and 13 cases(0.91%)of rare thalassemia.A total of 19 mutant genes and 25 genotypes were detected,with CD41-42(-CTTT)being the most common.④A total of 53 different genotypes were detected in the carriers ofα-thalassemia combined withβ-thalassemia,and the top genotype was--^(SEA)/ααβ^(CD41-42M)/β^(N).⑤The carrier rates of Yao and Han nationality were comparable,and the differences were not significant(χ^(2)=0.300,P=0.584).The differences in carrying rates between Zhuang and Yao(χ^(2)=23.66,P<0.001),and between Zhuang and Han(χ^(2)=116.98,P<0.001)were significant.⑥The carrier

关 键 词：珠蛋白生成障碍性贫血 基因型 基因携带率 

分 类 号：R556.61[医药卫生—血液循环系统疾病] Q786[医药卫生—内科学]