CAJ | 학술논문

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.
목적 조사중경시한족인동β-지중해빈혈(β-지빈,β-Thal)적기인휴대솔급기돌변기인류형화빈솔분포.방법 이전자동혈세포분석의、작산섬유소박막전영화태인혈홍단백(HbF)감변성시험대1726례중경시한족인동진행β-지빈혈액학사사,이평균홍세포체적(MCV)＜80 fl화(혹)평균홍세포혈홍단백함량(MCH) ＜27 pg,혈홍단백A2 (HbA2) ＞3.3％화(혹)HbF＞ 2％위β-지빈적초사지표.초사양성자진행β-지빈기인분석.결과 1726례양본중검출24례β-지빈잡합자,1례β-지빈쌍중잡합자,등위기인수26개,인군중β-지빈적기인휴대솔위1.51％.1726예외주정맥혈표본경혈액학삼수분석,β-지빈초사지표양성자위164례,β-지빈초사양성솔위9.50％(164/1726).25례β-지빈휴대자중,공검출6충돌변기인,최상견적4충의차시CD41-42、IVS-Ⅱ-654、CD17 、βE(CD26),차4충돌변형점전부돌변기인적88.00％,시본지구적주요돌변충류.차외,환발현1례5'UTR; +43-+40(-AAAC)국내소견돌변,병수차재중국인중발현이상혈홍단백Hb Zurich.결론 중경지구시국내β-지빈발생솔교고화유전배경교복잡적지구,응가강인동β-지빈적혈액학표형사사화기인형적진단.
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.