贵州省铜仁地区珠蛋白生成障碍性贫血患者基因分析及分布特征
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摘要
目的了解贵州省铜仁地区珠蛋白生成障碍性贫血基因分布情况及种族差异。方法选取2018年6月～2019年1月来医院就诊的400例疑似珠蛋白生成障碍性贫血样本,采用PCR+导流杂交法进行基因确诊,并对不同民族的基因型分布进行分析。结果在400例疑似标本中,188例确诊为珠蛋白生成障碍性贫血,占47%,其中α-珠蛋白生成障碍性贫血84例(21%),β-珠蛋白生成障碍性贫血100例(25%)。α-珠蛋白生成障碍性贫血基因均以缺失型为主,并以—~(SEA)/αα(54.7%)和-α~(3.7)/αα(38.2%)最为常见。β-珠蛋白生成障碍性贫血中,以基因型β~(CD17)/β~N(44%)和β~(CD41-42)/β~N(36%)为主。进一步对汉族、土家族、苗族及其他民族中不同类型珠蛋白生成障碍性贫血检出率进行比较,发现β-珠蛋白生成障碍性贫血在各民族间检出率差异有统计学意义(χ~2=8.5,P<0.05)。且该类型携带者在汉族人群中以β~(CD17)/β~N基因型居多(54.9%),在土家族与苗族人群中均以β~(CD41-42)/β~N基因型居多(53.8%和33.3%)。结论贵州省铜仁地区珠蛋白生成障碍性贫血携带者以—~(SEA)/αα,β~(CD17)/β~N突变类型居多;β-珠蛋白生成障碍性贫血分布在铜仁地区具有种族差异性。
Objective To get insight into the positive rate of globin-producing anemia and the distribution pattern of various genotypes in Tongren prefecture,Guizhou province.Methods A total of 400 patients with suspected globin-producing anemia who came to the hospital from June 2018 to January 2019 were selected,and detected the deletions and mutations in α,β globin genes and analyzed the result of various genotypes by PCR+ flow-through hybridization technology.Results It was 188 globin-producing anemia samples,which were accounting for 47% in totally 400 tested samples,that were detected.Among the globin-producing anemia samples,there were 84 α-globin-producing anemia samples(21%) and 100 β-globin-producing anemia samples(25%).The majorα-globin-producing anemia genotypes were deletion types:—~(SEA)/αα(54.7%) and-α~(3.7)/αα(38.2%) were the most common genetypes.In the β-globin-producing anemia,the genotypes β~(CD17)/β~N(44%) and β~(CD41-42)/β~N(36%) were dominant.Furthermore,the detection rates of different types of globin-producing anemia in Han,Tujia,Miao and other ethnicgroups were compared,and the difference in detection rate of β-globin-producing anemia among ethnic groups was statistically significant(χ~2=8.5,P=0.036).The type of β-tglobin-producing anemia carriers were mostly β~(CD17)/β~N genotypes in the Han population(54.9%),and the β~(CD41-42)/β~N genotypes were predominant in the Tujia and Miao populations(53.8% and 33.3%).Conclusion The results suggests the carriers of thalassemia in Tongren area of Guizhou Province are mostly—~(SEA)/αα,β~(CD17)/β~N types,β-thalassemia distribution is ethnically diverse in Tongren area.
Objective To get insight into the positive rate of globin-producing anemia and the distribution pattern of various genotypes in Tongren prefecture,Guizhou province.Methods A total of 400 patients with suspected globin-producing anemia who came to the hospital from June 2018 to January 2019 were selected,and detected the deletions and mutations in α,β globin genes and analyzed the result of various genotypes by PCR+ flow-through hybridization technology.Results It was 188 globin-producing anemia samples,which were accounting for 47% in totally 400 tested samples,that were detected.Among the globin-producing anemia samples,there were 84 α-globin-producing anemia samples(21%) and 100 β-globin-producing anemia samples(25%).The majorα-globin-producing anemia genotypes were deletion types:—~(SEA)/αα(54.7%) and-α~(3.7)/αα(38.2%) were the most common genetypes.In the β-globin-producing anemia,the genotypes β~(CD17)/β~N(44%) and β~(CD41-42)/β~N(36%) were dominant.Furthermore,the detection rates of different types of globin-producing anemia in Han,Tujia,Miao and other ethnicgroups were compared,and the difference in detection rate of β-globin-producing anemia among ethnic groups was statistically significant(χ~2=8.5,P=0.036).The type of β-tglobin-producing anemia carriers were mostly β~(CD17)/β~N genotypes in the Han population(54.9%),and the β~(CD41-42)/β~N genotypes were predominant in the Tujia and Miao populations(53.8% and 33.3%).Conclusion The results suggests the carriers of thalassemia in Tongren area of Guizhou Province are mostly—~(SEA)/αα,β~(CD17)/β~N types,β-thalassemia distribution is ethnically diverse in Tongren area.
引文
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[2] 孟凡飞,李毅,蒲晓允.重庆地区儿童珠蛋白生成障碍性贫血基因诊断分析[J].现代检验医学杂志,2016,31(6):41-43.MENG Fanfei,LI Yi,PU Xiaoyun,et al.Diagnostic analysis of the genes of thalassemia in children in Chongqing[J].Journal of Modern Laboratory Medicine,2016,31(6):41-43.
[3] 张松,邹汉良,罗史科,等.细胞MCV与RDW在初筛诊断珠蛋白生成障碍性贫血的应用价值[J].现代检验医学杂志,2007,22(5):63-65.ZHANG Song,ZOU Hanliang,LUO Shike,et al.Application values of red blood cell MCV and RDW in preliminary screening diagnosis of thalassemia[J].Journal of Modern Laboratory Medicine,2007,22(5):63-65.
[4] TAHER A T,WEATHERALL D J,CAPPELLINI M D.Thalassaemia[J].Lancet,2018,391(10116):155-167.
[5] 王玉丰,田秀娟,周玉海,等.琼南地区黎族、汉族小细胞性贫血个体地中海贫血基因分析[J].中国输血杂志,2016,29(12):1376-1379.WANG Yufeng,TIAN Xiujuan,ZHOU Yuhai,et al.Genetic analysis of thalassemia in Li and Han individuals with microcytic anemia in South Hainan[J].Chinese Journal of Blood Transfusion,2016,29(12):1376-1379.
[6] 朱晓西.贵州地区2000例地中海贫血基因诊断结果分析与研究[J].中国优生与遗传杂志,2016,24(12):39-40,52.ZHU Xiaoxi.Analysis and research on the diagnosis results of 2000 thalassemia genes in Guizhou area[J].Chinese Journal of Birth Health & Heredity,2016,24(12):39-40,52.
[7] 徐湘民,张新华,陈荔丽.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011:25-33.XU Xiangmin,ZHANG Xinhua,CHEN Lili.Guidelines for thalassemia prevention and control programme[M].Beijing:People’s Military Medical Publishing House,2011:25-33.
[8] 刘兴梅,王茹蕾,苏莉,等.贵州籍α,β-地中海贫血患者的基因突变类型分析[J].贵州医科大学学报,2018,43(7):781-784.LIU Xingmei,WANG Rulei,SU Li,et al.Analysis of α,β-thalassemia mutations in Guizhou[J].Journal of Guizhou Medical University,2018,43(7):781-784.
[9] HE Sheng,LI Dongmin,LAI Yunli,et al.Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region,China[J].Arch Gynecol Obstet,2014,289(1):61-65.
[10] 陈望,刘爱胜,文艳,等.未婚青年人群珠蛋白生成障碍性贫血基因缺陷携带率现状调查研究[J].现代检验医学杂志,2016,31(3):121-123,126.CHEN Wang,LIU Aisheng,WEN Yan,et al.Investigation and study on the present situtation of genetic defect carrying rate in unmarried young men with thalassaemia[J].Journal of Modern Laboratory Medicine,2016,31(3):121-123,126.
[11] 王林铄,黄海龙,林娜,等.福建地区β-地中海贫血基因突变谱分析[J].中国妇幼保健,2015,30(13):2040-2043.WANG Linshuo,HUANG Hailong,LIN Na,et al.Analysis of gene mutation spectrum of β-thalassemia in Fujian[J].Maternal and Child Health Care of China,2015,30(13):2040-2043.
[12] 张杰,贺静,曾小红,等.云南省人群地中海贫血遗传多样性的研究[J].昆明医科大学学报,2016,37(1):28-34.ZHANG Jie,HE Jing,ZENG Xiaohong,et al.Genetic heterogeneity of thalassemia in Yunnan Province[J].Journal of Kunming Medical University,2016,37(1):28-34.