广西地区13589例地中海贫血筛查结果及基因突变类型分析  

Screening and gene mutation type of 13589 cases with thalassemia in Guangxi region

作　　者：刘富华[1,2] 贾艺聪 陈洁晶[2] 林华[2] 史舟芳[1] 刘珊宇 郭丽[2] 薛雯[2] 吴润强[2] 

机构地区：[1]广西师范大学生命科学学院,广西桂林541002 [2]中国人民解放军第181医院中心实验室,广西代谢性疾病研究重点实验室

出　　处：《临床血液学杂志》2015年第6期966-969,共4页Journal of Clinical Hematology

基　　金：桂林市科技计划(No:20130120-21)

摘　　要：目的:了解广西地区地中海贫血(地贫)的基因突变类型和分布情况。方法:2012-03-2014-11到我单位进行地贫基因检查的患者,用PCR结合琼脂糖凝胶电泳技术检测缺失型α地贫基因,PCR结合膜反向杂交技术检测β地贫基因。结果:13 589例样本共检出α、β地贫2 866例,比例为21.09%。其中缺失型α地贫1 757例(12.93%),常见缺失型α地贫基因型为--SEA/αα(1 026例),-α3.7/αα(498例),-α4.2/αα(150例),构成比分别为58.39%、28.34%、8.54%,共95.27%,其中以--SEA/αα最为常见;其他基因型包括--SEA/-α3.7、--SEA/-α4.2、-α3.7/-α3.7、-α3.7/-α4.2,构成比分别为2.90%、1.25%、0.40%、0.17%。确定为β地贫共1 109例(8.16%),共计发现基因型23种,其中最常见的突变类型分别为CD41-42(-TCTT)、CD17(A→T)、IVS-2-654(C→T)、-28(A→G)、CD71-72(+A)、βE、-29(A→G),共占95.94%,其中以CD41-42(-TCTT)位点突变所占比例最高。α地贫兼β地贫98例。结论:广西地区α地贫以--SEA/αα最为常见,β地贫以CD41-42(-TCTT)最为常见,α地贫发病率高于β地贫。广西是地贫高发区域,继续做好广西人群的地贫筛查和产前基因诊断对优生优育具有重要作用。Objective：To study gene mutation type and distribution of thalassemia in Guangxi area.Method：During March 2012 to November 2014,blood samples were collected from patients who came to test thalassemia in our hospital.PCR technology and agarose gel electrophoresis were used to test deficiencyα-thalassemia.Besides,we used PCR technology and membrane reverse hybridization technique to testβ-thalassemia.Result：Totally,2 866 samples were foundα-andβ-thalassemia positive among 13 589 samples,accounted for 21.09%.There were 1 757 samples withα-thalassemia accounted for 12.93%.It included 1 026 samples with--SEA/αα,498 samples with-α3.7/ααand 150 samples with-α4.2/αα,and the component proportion was 58.39%,28.34%,8.54% respectively.Other gene types,such as--SEA/α3.7,--SEA/-α4.2,-α3.7/-α3.7,-α3.7/-α4.2,were less common,and the component proportion was 2.90%,1.25%,0.40%,0.17% respectively.Besides,there were 1 109 samples withβ-thalassemia.Totally 23 gene mutation types were found,including several most common types CD41-42（-TCTT）,CD17（A→T）,IVS-2-654（C→T）,-28（A→G）,CD71-72（＋ A）,βE,-29（A→G）,and the proportion was95.94%.A total of 98 cases wereα-thalassemia composited ofβ-thalassamia.Conclusion：This study confirmed a high population frequency of thalassemia in Guangxi region.It is important to test thalassemia for prenatal and postnatal care.

关 键 词：地中海贫血 Α地中海贫血 Β地中海贫血 

分 类 号：R556[医药卫生—血液循环系统疾病]