重庆市汉族儿童β-地中海贫血的分子流行病学研究  

Prevalence and molecular analysis of β-thalassemia in children of Han ethnicity in Chongqing city

作　　者：姚秀云[1] 张渝美[2] 秦蓁子[3] 繁荣 邹琳 陈仕平 张磊 谢茜[7] 钟晓芸[7] 完莹[1] 于洁[1] 

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科,400014 [2]重庆医科大学附属儿童医院检验科,400014 [3]重庆医科大学附属儿童医院临床分子中心,400014 [4]江北区妇幼保健院儿科 [5]南岸区妇幼保健院儿科 [6]深圳华大基因 [7]重庆市妇幼保健院儿科

出　　处：《中华儿科杂志》2013年第7期518-522,共5页Chinese Journal of Pediatrics

基　　金：重庆市卫生局医学科学技术研究重点资助项目（NO.2010-1-42）

摘　　要：目的 调查重庆市汉族儿童β-地中海贫血（β-地贫,β-Thal）的基因携带率及其突变基因类型和频率分布.方法 以全自动血细胞分析仪、醋酸纤维素薄膜电泳和胎儿血红蛋白（HbF）碱变性试验对1726例重庆市汉族儿童进行β-地贫血液学筛查,以平均红细胞体积（MCV）＜80 fl和（或）平均红细胞血红蛋白含量（MCH） ＜27 pg,血红蛋白A2 （HbA2） ＞3.3％和（或）HbF＞ 2％为β-地贫的初筛指标.初筛阳性者进行β-地贫基因分析.结果 1726例样本中检出24例β-地贫杂合子,1例β-地贫双重杂合子,等位基因数26个,人群中β-地贫的基因携带率为1.51％.1726例外周静脉血标本经血液学参数分析,β-地贫初筛指标阳性者为164例,β-地贫初筛阳性率为9.50％（164/1726）.25例β-地贫携带者中,共检出6种突变基因,最常见的4种依次是CD41-42、IVS-Ⅱ-654、CD17 、βE（CD26）,此4种突变型占全部突变基因的88.00％,是本地区的主要突变种类.此外,还发现1例5＇UTR; ＋43-＋40（-AAAC）国内少见突变,并首次在中国人中发现异常血红蛋白Hb Zurich.结论 重庆地区是国内β-地贫发生率较高和遗传背景较复杂的地区,应加强儿童β-地贫的血液学表型筛查和基因型的诊断.Objective To investigate the incidence and the gene mutation frequencies and patterns of β-thalassemia （β-Thal） in ethnic Han children in Chongqing city.Method A total of 1726 children were screened by using automatic hemocytic analyzer,cellulose acetate electrophoresis and fetal hemoglobin alkali denaturation test.Samples with mean corpuscular volume （MCV） 〈 80 fl,cell hemoglobin content （MCH） 〈 27 pg and hemoglobin A2 （HbA2） levels 〉 3.3%,fetal hemoglobin （HbF） 〉 2% for β-Thal screening indicators.The positive samples of screening indicators were detected and identified by PCR-reverse dot blot method for 18 common β-Thal mutations in Chinese populations,unknown mutations samples were subjected to DNA sequencing analysis of the β-globin gene.Result Twenty-five cases of β-Thal carriers were observed from the 1726 samples,with 24 cases of β-Thal heterozygote and one case of double heterozygote.Therefore,the β-Thal carrier rate was 1.51%.After 1726 peripheral venous blood samples analyzed by hematological parameters,164 positive cases of β-Thal screening indicators were found,with the positive rate being 9.50% （164/1726）.A total of 6 different gene mutations were detected,the four most common mutations were as the following：CD41-42,IVS-Ⅱ-654,CD17 and beta E.These four mutations as the major types in this area accounted for 88.00% of all the mutations.In addition,one rare mutation of 5 ＇ UTR ; ＋ （43-40） was found,and one case of the hemoglobin variant of Hb Zurich was reported in Chinese people for the first time.Conclusion Chongqing is a high risk region of the β-Thal.Epidemiological Data from the research was useul for the genetic counseling and the prevention of β-Thal major.

关 键 词：Β地中海贫血 流行病学 患病率 儿童 

分 类 号：R725.5[医药卫生—儿科]