α和β地中海贫血双重杂合子的基因诊断  

Genetic Diagnosis of α and β Thalassemia Dual Heterozygote

作　　者：罗桂香[1] 沈湘[1] 陈碧[1] 

机构地区：[1]广东医学院附属医院,广东湛江524001

出　　处：《实用妇产科杂志》2003年第3期145-146,共2页Journal of Practical Obstetrics and Gynecology

摘　　要：目的 :探讨α和β地中海贫血双重杂合子的基因诊断。方法 :采用跨越缺失区断裂点的PCR方法检测α 地中海贫血 1基因。采用等位基因特异寡核苷酸探针 /反向点杂交 (ASO/RDB)技术检测 β 地中海贫血基因。 结果 :对地中海贫血筛查中发现的 3例疑为α和β地中海贫血双重杂合子进行基因诊断 ,均属于东南亚缺失型α 地中海贫血 1和β 地中海贫血双重杂合子 ,其中 1例为α 地中海贫血 1和β 2 8(A→G) ,1例为α 地中海贫血 1和βIVS Ⅱ 6 5 4 (C→T) ,1例为α 地中海贫血 1和HbE。结论 :α和 β地中海贫血双重杂合子的检出对临床准确进行地中海贫血的产前诊断有重要意义。Objective:To perform genetic diagnosis of α and β thalassemia dual heterozygote.Methods:α-thal 1 genes were amplified using gap-PCR method.β-thal genes were confirmed by β-thalassemia allele specific oligonucleotide probe/reverse dot blot hybridization(ASO/RDB)techniques.Results:Three cases of suspected α-thalassemia-1 and β-thalassemia dual heterozygotes were all Southeast Asia(-- SEA )type of α-thalassemia-1 and β-thalassemia (- SEA /αα,βT/βΑ)dual heterozygotes.Out of them,1 case was α-thalassemia-1 and β-28 (A→G),1 case was α-thalassemia-1 and β IVS-Ⅱ-654(C→T),1 case was α-thalassemia-1 and HbE.Conclusions:The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.

关 键 词：地中海贫血 基因诊断 杂合子 聚合酶链反应 等位基因特异寡核苷酸探针/反向点杂交技术 

分 类 号：R556.61[医药卫生—血液循环系统疾病]