[1]田 敏,李 丽,毛万成,等.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[J].现代检验医学杂志,2019,34(03):51-54.[doi:10.3969/j.issn.1671-7414.2019.03.012]
　TIAN Min,LI li,MAO Wan-cheng,et al.Genetic Analysis and Distribution Characteristics ofGlobin-Producing Anemia Patients in Tongren Area,Guizhou Province[J].Journal of Modern Laboratory Medicine,2019,34(03):51-54.[doi:10.3969/j.issn.1671-7414.2019.03.012]
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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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《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年03期
页码:
51-54
栏目:
论著
出版日期:
2019-06-20

文章信息/Info

Title:
Genetic Analysis and Distribution Characteristics ofGlobin-Producing Anemia Patients in Tongren Area,Guizhou Province
文章编号:
1671-7414(2019)03-051-04
作者:
田 敏; 李 丽; 毛万成; 田晓静; 杨 韬
(思南县人民医院,贵州思南 565100)
Author(s):
TIAN Min; LI li; MAO Wan-cheng; TIAN Xiao-jing; YANGTao
(Sinan County People's Hospital,Guizhou Sinan 565100,China)
关键词:
珠蛋白生成障碍性贫血;  基因型;  分布特征
分类号:
R556.61; R786
DOI:
10.3969/j.issn.1671-7414.2019.03.012
文献标志码:
A
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-α3.7/αα(38.2%)最为常见。β-珠蛋白生成障碍性贫血中,以基因型βCD17/βN(44%)和βCD41-42/βN(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(χ2=8.5,P<0.05)。且该类型携带者在汉族人群中以βCD17/βN基因型居多(54.9%),在土家族与苗族人群中均以βCD41-42/βN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,βCD17/βN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。
Abstract:
Objective To get insight into the positive rateof 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 hospitalfrom 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 was188 globin-producing anemia samples,which were accounting for 47% in totally400 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 -α3.7/αα(38.2%)were the most common genetypes.In the β-globin-producing anemia,the genotypes βCD17/βN(44%)and βCD41-42/βN(36%)were dominant.Furthermore,the detection rates of different types of globin-producing anemiain Han,Tujia,Miao and other ethnicgroups were compared,and the difference indetection rate of β-globin-producing anemia among ethnic groups was statistically significant(χ2=8.5,P=0.036).The type of β-tglobin-producinganemia carriers were mostly βCD17/βN genotypes in the Han population(54.9%),and the βCD41-42/βN genotypes were predominant in the Tujiaand Miao populations(53.8% and 33.3%).Conclusion Theresults suggests the carriers of thalassemia in Tongren area of Guizhou Province are mostly --SEA/αα,βCD17/βN types,β-thalassemia distribution is ethnically diverse in Tongren area

参考文献/References:

[1] HE Jing,SONG Wenhui,YANG Jinlong,et al.Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population:the dai nationality,China[J].Genetics in Medicine,2017,19(9):1022-1031.
[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 LaboratoryMedicine,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.

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备注/Memo

备注/Memo:
基金项目:2017年贵州省铜仁市科技项目,项目编号:铜市科研(2017)47-57。 作者简介:田 敏(1972-),女,土家族,副主任技师,研究方向:分子免疫。 通讯作者:毛万成,男,主任技师,研究方向:出生缺陷,E-mail:780571385@qq.com。 收稿日期:2019-02-22 修回日期:2019-04-09
更新日期/Last Update: 2019-06-20