武汉地区儿童β地中海贫血基因突变类型分析  

Analysis of β-thalassemia genetic diagnosis and genotypes on children in Wuhan region

作　　者：肖晗[1] 向赟[1] 孙红[1] 向飞艳[1] 夏倩[1] 

机构地区：[1]武汉市妇女儿童医疗保健中心检验部,湖北武汉430016

出　　处：《生物医学工程与临床》2015年第5期515-518,共4页Biomedical Engineering and Clinical Medicine

摘　　要：目的 探讨武汉地区儿童β地中海贫血致病基因分布情况。方法 选择2013年1月至2015年1月在武汉市妇女儿童医疗保健中心就诊的经血细胞分析筛选出的疑似β地中海贫血患儿274例，其中男性178例，女性96例；年龄6个月 ～ 14岁，平均年龄为2.83岁。采集乙二胺四乙酸二钾盐（EDTA）抗凝静脉血，提取白细胞DNA，采用PCR寡核苷酸探针反向斑点杂交法（PCR-RDB）进行β地中海贫血基因检测，对基因突变位点和基因型进行分析。结果 274例β地中海贫血初筛患儿中确诊152例，检出率为55.47 %（152/274）。共检出9种等位基因突变，分别为IVS-2-654、CD41-42、CD17、CD43、CD71-72、CD27-28、-28、-29、CD26；3种最常见的突变位点IVS-2-654、CD41-42、CD17分别占到全部等位基因突变的43.81 %（85/194）、23.20 %（45/194）、12.89 %（25/194）。共检出26种β地中海贫血基因型，9种单纯杂合子110例（占72.37 %，110/152），13种双重杂合子36例（占23.68 %，36/152），4种纯合子6例（占3.95 %，6/152）。结论 β地中海贫血是武汉地区贫血患儿的重要原因之一；武汉地区β地中海贫血患儿以IVS-2-654位点的突变最为常见。Objective To investigate the gene mutations and distribution characteristics of β- thalassemia of children in Wuhan region. Methods A total of 274 cases with doubtful β- thalassemia by EDTA anticoagulation venous blood samples in Wuhan Medical and Health Center for Women and Children from January 2013 to January 2015 were enrolled, included 178 males and96 females, aged from 6-month to 14 years old with mean age of 2.83 years old. The EDTA blood was collected and leukocyte DNA was extracted, then gene mutations and genotypes were analyzed by polymerase chain reaction-reverse dot blot（PCR-RDB）method. Results The 152 of 274 cases were diagnosed as β-thalassemia, and the detection rate was 55.47 %（152/274）. There were9 gene mutation types, which included IVS-2-654, CD41-42, CD17, CD43, CD71-72, CD27-28,-28,-29 and CD26. The IVS-2-654, CD41-42 and CD17 were the most common gene mutation types, accounted for 43.81 %（85/194）, 23.20 %（45/194） and12.89 %（25/194）, respectively. Twenty-six β- thalassemia genotypes were detected, which included 9 simple heterozygote genotypes（110 cases, accounted for 72.37 %）, 13 double heterozygote genotypes（36 cases, accounted for 23.68 %） and 4 homozygote genotypes（6 cases, accounted for 3.95 %）. Conclusion It is demonstrated that β- thalassemia is one of important causes of children anaemia in Wuhan region, and IVS-2-654 gene mutation is the most common type in β-thalassemia.

关 键 词：Β地中海贫血 聚合酶链反应(PCR) 寡核苷酸探针反向斑点杂交法(RDB) 基因型 武汉地区 

分 类 号：R725.5[医药卫生—儿科]