摘要
目的：探讨α与β地中海贫血双重杂合子的基因诊断。方法：采用聚合酶链反应（ＰＣＲ）和β地中海贫血等位特异寡核苷酸探针／反向点杂交（ＡＳＯ／ＲＤＢ）技术，对在遗传咨询和地中海贫血产前诊断病例中发现的６例疑为α与β地中海贫血双重杂合子个体，分别进行了α地中海贫血基因和β地中海贫血基因分析。结果：该６个病例均属东南亚缺失型α地中海贫血１和β地中海贫血双重杂合子（－－ＳＥＡ／αα，βＴ／βＡ），其中３例为α地中海贫血１和β４１４２（－ＴＣＴＴ），２例为α地中海贫血１和β－２８（Ａ→Ｔ）和１例α地中海贫血１与βＩＶＳⅡ６５４（Ｃ→Ｔ）双重杂合子。
Objective:To perform genetic diagnosis of α and β thalassemia dual heterozygotes.Methods:PCR and β thalassemia allele specific oligonucleotide probe/reverse dot blot(ASO/RDB) techniques were used.Results:Six cases of suspected α thalassemia 1 and β thalassemia daul heterozygotes were found in genetic counseling and prenatal diagnosis.On genetic diagnosis,they were all Southeast Asia(SEA) type of α thalassemia 1 and β thalassemia (-- SEA /αα, β T/β A)dual heterozygotes. Out of them, 3 cases were α thalassemia 1 and β 41 42(-TCTT), 2 were α thalassemia 1 and β-28(A→T) and 1was α thalassemia 1 and β IVS Ⅱ 654(C→T) double heterozygotes.Conclusion:The detection of thalassemia dual heterozygotes facilitates the prenatal diagnosis with more precision.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1998年第10期525-527,共3页
Chinese Journal of Hematology
基金
广东省科委重点科研项目基金
关键词
地中海贫血
杂合子
聚合酶链反应
基因诊断
Thalassemia Gene Heterozygote Diagnosis Polymerase chain reaction Reverse dot blot
