柳州市城镇人群α和β地中海贫血的发生率调查和基因型鉴定

蔡稔; 李莉艳; 梁昕; 刘忠英; 苏柳; 李文军; 朱潜贵; 莫秋华; 潘莉珍; 欧阳鸿; 黄丽华; 徐湘民

Abstract

蔡稔,李莉艳,梁昕,刘忠英,苏柳,李文军,朱潜贵,莫秋华,潘莉珍,欧阳鸿,黄丽华,徐湘民.柳州市城镇人群α和β地中海贫血的发生率调查和基因型鉴定[J].Chinese journal of Epidemiology,2002,23(4):281-285

柳州市城镇人群α和β地中海贫血的发生率调查和基因型鉴定

Prevalence survey and molecular characterization of α and β thalassemia in Liuzhou city of Guangxi

Received:November 20, 2001 Revised:August 15, 2012

DOI：

KeyWord: 地中海贫血基因频率流行病学,分子

English Key Word: Thalassemia Gene frequencies Epidemiology molecular

FundProject:广东省科委和广东省卫生厅联合攻关重大课题基金资助项目 (99B06704G)

Author Name	Affiliation
Cai Ren	Women and Children's Health Care Hospital of Liuzhou City,Guangxi, Liuzhou 545001, China
Li Liyan	第一军医大学细胞生物与医学遗传学教研室
Liang Xin	Women and Children's Health Care Hospital of Liuzhou City,Guangxi, Liuzhou 545001, China
Liu Zhongying	第一军医大学细胞生物与医学遗传学教研室
Su Liu	广西壮族自治区柳州市妇幼保健院产科, 545001
Li Wenjun	第一军医大学细胞生物与医学遗传学教研室
Zhu Qiangui	广西壮族自治区柳州市妇幼保健院婚保科, 545001
Mo Qiuhua	第一军医大学细胞生物与医学遗传学教研室
Pan Lizhen	Women and Children's Health Care Hospital of Liuzhou City,Guangxi, Liuzhou 545001, China
Ou Yang Hong	第一军医大学细胞生物与医学遗传学教研室
Huang Lihua	Women and Children's Health Care Hospital of Liuzhou City,Guangxi, Liuzhou 545001, China
Xu Xiangmin	1. Women and Children's Health Care Hospital of Liuzhou City,Guangxi, Liuzhou 545001, China

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Abstract:

目的　调查广西柳州市城镇人口中α和 β地中海贫血 (地贫 )的发生率和基因突变类型及其构成比。方法　以整群抽样收集 102 8份其父母双方或一方为柳州市户口的新生儿脐带血及1312份柳州市户口的婚检育龄成人的外周静脉血 ,分别进行α地贫和 β地贫调查 ;所有样品均进行红细胞 (RBC)参数和血红蛋白 (Hb)电泳分析 ,以巴特血红蛋白 (HbBart’s)阳性者为α地贫 ,平均红细胞体积 (MCV) <85fl和HbA2 ≥ 4 .0 %为 β地贫阳性表型指标。采用基于PCR的基因分析方法进行α和 β地贫及 β地贫复合α地贫样品的确诊 ,对α或 β地贫表型阳性而未查出基因者 ,以家系成员的表型分析诊断。结果 102 8份脐带血样品中检出α基因携带者 112例 (包括 3例双重杂合子 ) ,α地贫基因携带率 11.19% ,共检出含 5种α地贫的等位基因 ,其构成比依次为 37.4 % ( SEA)、31.3%( α3.7)、17.4 % ( α4 .2 )、12 .1% (αCSα)和 0 .9% (αQSα)。 1312份成人外周静脉血样品中共发现 β地贫携带者 89例 ,基因携带率为 6 .78%。其中有 14例伴有胎儿血红蛋白 (HbF)增高 ,检出率 1.07%。在 89例 β地贫阳性样品中 ,有 16例 (占 18% )为 β地贫复合α地贫双重杂合子 ,共发现 9种不同的基因型 ,检出率为 1.22 %。

English Abstract:

Objective To investigate the gene frequencies and mutation patterns of α thalassemia(α thal) and β thalassemia(β thal) in Liuzhou city of Guangxi Zhuang Autonomous Region. Methods Cluster sampling was used. A total of 1 028 of umbilical blood samples were collected for a prevalence study of α thal and a total of 1 312 healthy young people when reciving pre marriage consultation were recruited for a β thal prevalence survey. Individuals live in city or town area of Liuzhou. A complete blood count as well as hemoglobin electrophoresis analysis were done in all of samples for phenotyping of α and β thals. Those with Hb Bart's for α thal indicator and those with both microcytosis (MCV85 fl) and elevated levels of Hb A 2 (≥4.0%) for β thal were further studied by DNA analysis. PCR based methodologies were used to characterize the mutation contributions of α and β thals. All the subjects were tested for the state of carrying β thala alleles for evaluating the situation of the compound heterozygotes of α thal with β thal. Results Of 1 028 random samples of umbilical blood screened, 112 of subjects were defined to be the gene carriers of α thal. The α thal carrier rate was as high as 11.19 % including 3 compound heterozygotes. Five well known types of α thal alleles were detected with gene contributions of 37.4 % ( SEA deletion ), 31.3 % ( α 3.7 deletion), 17.4 % ( α 4.2 deletion), 12.1 % (α CS α mutation), and 0.9 % (α QS α mutation), successively. Of the 1 312 adult specimens studied, 89 with β thal including 14 of the compound higher Hb F subjects were detected. All of the 89 phenotypic β thal carriers had the mutations in the beta globin gene, making the overall prevalence 6.78 %. The commonly seen three mutations,β CD41 42 ( CTTT) frameshieft,β CD17(T A) nonsense mutation and β 28 (A G) promoter variation were accounted for 90% of the β thal alleles in Liuzhou. Of these β thal subjects, 16 (accounting for 18% ) were found to be the compound heterozygosity for a β thal and an α thal with 9 different types of gene defects with a detection rate 1.22 %. Conclusion Data from ecidation of α and β thal gene frequencies and mutation spectrum in Liuzhou city was useful for genetic counselling and prenatal diagnosis of this disease.

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