400例地中海贫血基因检测分析  

Gene analysis of 400 cases of thalassemia

作　　者：李莉[1] 林晓丹[1] 陈文璟[1] 

机构地区：[1]暨南大学附属第一医院临床医学检验中心,广东广州510630

出　　处：《暨南大学学报（自然科学与医学版）》2012年第2期209-212,共4页Journal of Jinan University(Natural Science & Medicine Edition)

基　　金：广东省医学科研基金项目(A2008341)

摘　　要：目的:应用基因诊断技术对400例病人进行地中海贫血(简称地贫)基因检测,了解其基因突变的类型,旨在为临床预防地贫重症患儿的出生提供指导。方法:400个样本分别检测α-地贫及β-地贫基因型,α-地贫采用gap-PCR技术检测东南亚型缺失(--SEA)、右侧缺失(-a3.7)和左侧缺失(-a4.2),β-地贫采用聚合酶链反应(PCR)-膜反向点杂交技术(RDB)检测β-珠蛋白基因上的17个位点突变。结果:在进行地贫基因检查的400例病人中,检出α-珠蛋白基因缺失的有118例,检出β-珠蛋白基因突变者共78例,均为杂合子,检出αβ复合型地贫者6例,检出Barts水肿胎儿1例。结论:基因诊断技术能确诊地贫缺失或突变,检测绒毛、羊水或脐带血时须避免母体血污染。Aim： Perform gene diagnosis on 400 specimen,to explore the gene mutation patterns and frequencies of thalassemia in Guangdong area and control the birth of severe thalassemic children.Methods： The commonest known 3 kinds of gene deletion types of α-thalassemia（——SEA/-a3.7/-a4.2）were checked by gap-PCR.Simultaneously,the commonest known 17 types mutation on β-globin gene of the 400 specimen were identified by reverse dot blot hybridization（RDB）.Results： 118 cases of the 400 specimen were detected as α-thalassemia and 78 cases were detected as β-thalassemia（heterozygous）.6 cases were α-and β-complex thalassemia.1 case was detected as Bart＇s hydrops syndrome.Conclusion：Genetic diagnosis is an effective technology for thalassemia prenatal diagnosis,and it is necessary to avoid contaminations from maternal blood in the detection of villi,amniotic fluid and umbilical cord blood.

关 键 词：地中海贫血 基因诊断 产前诊断 

分 类 号：R33[医药卫生—人体生理学]