摘要
目的了解深圳地区地中海贫血(简称“地贫”)患儿基因型的分布情况,为该疾病基因诊断及遗传咨询提供参考。方法选取来我院就诊的6313例疑似地贫患儿,采用跨越断裂点PCR(Gap-PCR)检测缺失型α地中海贫血基因,反向点杂交(RDB)技术检测3种α基因突变类型和17种β基因突变型类型。结果6313例患儿样本中检测出地贫基因携带者为4121例(阳性率为65.28%),其中α地贫患者及其携带者占55.23%,18种突变基因型,以--^(SEA)/αα基因型最为常见(占72.32%);β地贫患者及其携带者为44.77%,37种突变基因型,主要为β^(41-42)/β^(N)、β^(654)/β^(N)、β^(17)/β^(N)、β^(-28)/β^(N)、β^(71-72)/β^(N)基因型,共占87.98%;αβ复合型地贫占3.11%,主要基因型为-α^(3.7)/αα+β^(41-42)/β^(N)、--^(SEA)/αα+β^(41-42)/β^(N)、--^(SEA)/αα+β^(654)/^(β)N、-α^(3.7)/αα+β^(654)/β^(N)。结论深圳患儿存在较高比例的缺失型α地贫基因--^(SEA)/aa,以及一定数量的αβ复合重型地贫患儿,必须引起重视。
Objective To investigate the distribution of genotypes in the children with thalassemia in Shenzhen to provide reference for genetic diagnosis and counseling of thalassemia.Methods A total of 6313 children with suspected thalassemia who sought medical treatment in our hospital were selected as research objects.Gap-PCR method was used to detect deletion alpha thalassemia gene.PCR-Reverse Dot Blot(RDB)method was used to detect 3 kinds ofα-globin mutant genotypes and 17β-globin mutant genotypes.Results Among the 6313 children,4121(positive rate of 65.28%)were detected as thalassemia gene carriers,among whichα-thalassemia patients and their carriers accounted for 55.23%,and there were 18 mutant genotypes,of which--^(SEA)/ααgenotype was the most common(72.32%);β-thalassemia patients and their carriers accounted for 44.77%,and there were 37 mutant genotypes,mainlyβ^(41-42)/β^(N),β^(654)/β^(N),β^(17)/β^(N),β^(-28)/β^(N),andβ^(71-72)/β^(N),accounting for 87.98%;αβ-thalassemia patients and their carriers accounted for 3.11%,the main genotypes were-α^(3.7)/αα+β^(41-42)/β^(N),--^(SEA)/αα+β^(41-42)/β^(N),--^(SEA)/αα+β^(654)/β^(N)and-α^(3.7)/αα+β^(654)/β^(N).Conclusion There is a high proportion of deletionα-thalassemia gene--^(SEA)/aa and a certain number of children withαβ-thalassemia among children in Shenzhen,which must be paid attention.
作者
张民
文飞球
麦惠容
袁秀丽
刘四喜
陈小文
ZHANG Min;WEN Fei-qiu;MAI Hui-rong;YUAN Xiu-li;LIU Si-xi;CHEN Xiao-wen(Institute ofPediatrics,Shenzhen Children’s Hospital,Shenzhen 518038,China;Department of Hemooncology,ShenzhenChildren’s Hospital,Shenzhen 518038,China)
出处
《广东医科大学学报》
2023年第3期279-282,共4页
Journal of Guangdong Medical University
基金
深圳市科技计划资助项目(SGDX20201103095404018)
广东省医学科学技术研究基金资助项目(A20200101)。
