6545例α-地中海贫血基因检测结果分析  

Analysis of the gene detection results of 6 545 cases of alpha-thalassemia

作　　者：石明芳[1] 杨兰[1] 余夏 梁秀云[1] SHI Mingfang;YANG Lan;YU Xia;LIANG Xiuyun(Department of Clinical Laboratory,Nanning Municipal Second People's Hospital,Nanning 530031,Guangxi,China)

机构地区：[1]南宁市第二人民医院医学检验科,广西南宁530031

出　　处：《检验医学》2019年第1期8-10,共3页Laboratory Medicine

摘　　要：目的了解广西南宁江南区α-地中海贫血(简称地贫)人群的基因型特点。方法选取疑似α-地贫患者及α-地贫基因携带者配偶6 545例,对其进行基因检测。提取患者DNA,并进行体外扩增。采用跨越断裂点聚合酶链反应对4种常见缺失型α-地贫基因(-α^(3.7)、-α^(4.2)、--SEA、--THAI)进行检测。采用聚合酶链反应结合反向斑点杂交法对3种常见非缺失型α-地贫基因(HbCS、HbQS、HbWS)进行检测。结果共检出α-地贫基因2 573例(39.31%,2 573/6 545),其中静止型α-地贫1 083例(42.09%,1 083/2 573),轻型α-地贫1 370例(53.25%,1 370/2 573),中间型α-地贫(血红蛋白H病)120例(4.66%,120/2 573)。检出缺失型α-地贫2 070例,以--SEA/αα、-α^(3.7)/αα、-α^(4.2)/αα为主。检出缺失复合突变型α-地贫77例,以--SEA/α^(WS)α、--SEA/α^(CS)α、-α^(3.7)/α^(WS)α为主。检出非缺失型α-地贫426例,以α^(CS)α/αα、α^(WS)α/αα、α^(QS)α/αα为主。结论广西南宁江南区人群α-地贫基因携带者较多,缺失型以--SEA/αα为主,非缺失型以α^(CS)α/αα为主,中间型α-地贫(血红蛋白H病)也并非罕见,应对该地区人群开展地贫筛查和基因检测。Objective To study the genotype characteristics of alpha-thalassemia in the population of Guangxi Nanning Jiangnan.Methods A total of 6 545 cases of suspected alpha-thalassemia and alpha-thalassemia carriers'spouses received gene detection,and the DNA was extracted and amplified in vitro.By gap polymerase chain reaction,4 common kinds of deficiency alpha-thalassemia genotypes(-α^3.7,-α^4.2,-SEA and-THAI)were detected.By reverse dot blot polymerase chain reaction,3 common kinds of non-deficiency alpha-thalassemia genotypes(HbCS,HbQS and HbWS)were detected.Results In the 6 545 cases,2 573 cases(39.31%)were identified with alpha-thalassemia gene.Among them,there were 1 083 cases(42.09%)of stationary type,1 370 cases(53.25%)of light type and 120 cases(4.66%)of intermediate type(hemoglobin H disease).There were 2 070 cases of deficiency alpha-thalassemia,and the main genotypes were-SEA/αα,-α3.7/ααand-α4.2/αα.There were 77 cases of deficiency alpha-thalassemia with mutations,and the main genotypes were-SEA/α^WSα,-SEA/α^CSαand-α^3.7/α^WSα.There were 426 cases of non-deficiency alpha-thalassemia,and the main genotypes wereα^CSα/αα,α^WSα/ααandα^QSα/αα.Conclusions There are many carriers of alpha-thalassemia gene in Guangxi Nanning Jiangnan.The main genotypes of deficiency and non-deficiency alpha-thalassemia are-SEA/ααandα^CSα/αα,respectively.There are many cases of intermediate type alpha-thalassemia(hemoglobin H disease)as well.It should perform gene screening and detection at local area.

关 键 词：Α-地中海贫血 基因检测 基因型 

分 类 号：R556.6[医药卫生—血液循环系统疾病]