广东顺德地区180例β-地中海贫血患儿基因诊断分析  

Analysis on types of gene mutation in 180 cases of children with β-thalassemia in Shunde Area of Guangdong

作　　者：梁瑞珍[1] 梁玉全[1] 阮淑韵[1] 

机构地区：[1]南方医科大学附属佛山市顺德第一人民医院检验科,广东顺德528300

出　　处：《中国热带医学》2012年第5期612-614,共3页China Tropical Medicine

摘　　要：目的了解分析广东省顺德地区儿童β-地中海贫血的检出率,基因突变类型及其基因分布,为开展相关研究与治疗提供依据。方法采用PCR反向斑点杂交技术(RDB)检测14种β-地中海贫血基因类型。结果在516例儿童对象中检出10种β-地贫基因突变类型,其中确诊携带β-地中海贫血突变基因有180例,检出率为34.88%,全为杂合子,未见纯合子。按其发生频率高低依次为:CD41-42占46.66%;IVS-Ⅱ-654占16.66%;CD17占15.0%;TATA box-28占8.33%;CD71-72占5.0%;CD43,βE各占1.67%。其中双重杂合子有9例,占确诊患儿5.0%。分别为CD41-42/βE,CD41-42/CD17,CD41-42/TATA box-28,各占1.67%。结论本研究初步揭示了顺德地区β-地中海贫血的检出率、基因类型及基因频率,β-地中海贫血基因突变类型分布存在区域差异,为进行遗传咨询、临床治疗和婚育指导提供了有价值的基础资料。Objective To analyze the types of gene mutation and gene frequency of in β-thalassemia in children in Shunde.Methods The type of gene mutation and gene frequency of β-Talassemia was analyzed by PCR-RBD.Result 180 cases out of 516 were diagnosed as β-thalasemia gene mutation.10 kinds of mutation were detected,involving 180 mutation sites,and the detectable rate was 34.88%.and the descending rate were in the order of ⅣS-Ⅱ-654（16.66%）,CDl7（15.0%）,TATA box-28（8.33%）,CD71-72（5.0%）,CD（431.67%）,βE（1.67%）,CD41-42（46.66%）,CD41-42/βE（1.67%）,CD41-42/CD17（1.67%）,CD41-42/TATA box-28（1.67%）.Conclusion The type of gene mutation and frequency of β thalassemia were detected in Shunde.The type of gene mutation of β-thalassemia is distributed by regional difference,which provides a basis for hereditary consultation,clinical therapy and procreative guidance.

关 键 词：Β-地中海贫血 基因突变类型 反向斑点杂交技术 区域性 

分 类 号：R556.61[医药卫生—血液循环系统疾病]