广东地区β地中海贫血的基因分析与临床观察  

Molecular and clinical characteristics of β-thalassemia in guangdong province

作　　者：张力[1] 区小冰[1] 余一平[1] 

机构地区：[1]广州市儿童医院血液室,广州510120

出　　处：《临床血液学杂志》2008年第1期5-8,共4页Journal of Clinical Hematology

基　　金：广东省医学科学技术研究基金资助项目(No:A2003658)

摘　　要：目的:研究广东地区91例临床诊断为β地中海贫血(β地贫)患儿的分子缺陷,并简要探讨β地贫基因型与表现型之间的关系。方法:运用PCR,芯片杂交,荧光扫描技术,对β地贫患儿进行α及β珠蛋白的基因分析,并对其临床表现进行观察。结果:①广东地区β地贫基因突变可见8种类型:CD41-42,IVS-Ⅱ-654,TATAbox-28,CD17,CD71-72(+A),βE26,CD27-28,CD71-72(+T),其结构比依次为34.7%,24.3%,15.3%,15.3%,4.8%,2.4%,2.4%以及0.8%。其中重型β地贫可见15种基因组合形式;②基因突变类型不同导致临床表现不同,TATAbox-28及HbE的纯合子,双重杂合子以及复合α地贫者表现为中间型。结论:①CD41-42,IVS-Ⅱ-654,TATAbox-28是广东人及中国人中最常见的β地贫基因突变类型;②β地贫的基因突变类型与其临床表现有着密切的关系。Objective：To analyze the molecular abnormalities of β- thalassemia in 91 Cantonese β- thalassemia children （58 β- thalassemia traits and 33 β- thalassemia majors ） and study the relationship between genotype and phenotype of β-thalassemia. Method：Polymerase chain reaction,microarray hybridization and fluorescent scanning were used to analyze α and β- globin gene organization. Result：（1）Eight different mutations were identified among the patients with β- thalassemia in GuangDong province, namely CD41-42,IVS-Ⅱ- 654, TATAbox- 28, CD17, CD71- 72 （＋ A ）, β-E 26 , CD27- 28 and CD71- 72 （ ＋T ）, with the frequenceies 34.7%, 24.3%, 15.3%, 15.3%, 4.8%, 2.4%, 2.4% and 0.8% respectively. （2）In 33 β- thalassemia majors, the homozygotes and dual heterozygotes of TATAbox- 28 and β-E 26 as well as those patients complicated with α- thalassemia mutations had a milder clinical course and were detected to be β- thalassemia intermedias. Conclusion：（1）The three β- thalassemia mutations CD41- 42, IVS-Ⅱ- 654 and TATAbox- 28 were the most common mutation in Chinese. （2）The geno-ypes of β- thalassemia are associated with phenotypes.

关 键 词：地中海贫血 基因芯片 

分 类 号：R556.6[医药卫生—血液循环系统疾病]