摘要
目的:对两对有重型β-地中海贫血患儿家族史的夫妇进行产前基因诊断。方法:应用等位基因特异性聚合酶链反应(PCR)技术检测两对夫妇及其高风险胎儿的5种β-地中海贫血突变类型:CD41-42(-CTTT)缺失突变I、VSII654(C→T)突变、CD17(A→T)无义突变、TATA盒nt-28(A→G)突变和CD71-72(+A)移码突变。结果:家系1的父亲为TATA盒nt-28(A→G)/N杂合子,母亲为CD41-42(-CTTT)/N杂合子,胎儿正常;家系2的父亲为CD41-42(-CTTT)/N杂合子,母亲为CD71-72(+A)/N杂合子,胎儿为CD41-42(-CTTT)/CD71-72(+A)双重杂合子;上述2例胎儿出生及引产后的基因分析验证结果与产前基因诊断完全一致。结论:等位基因特异性PCR能准确地对β-地中海贫血高风险胎儿进行产前基因诊断,对预防重型β-地中海贫血患儿的出生具有重要意义。
Objective： To perform prenatal gene diagnosis on two couples who had family history of bearing children with severe β- thalassemia. Method： The following five mutations were detected with allele-speific PCR for two couples and their high risky fetus： CD 41-42 （-CTTT）, IVS II 654 （C→ T）, CD17A （A→G）, TATA box nt-28 （A→G） and CD71-72 （＋A）. Results： In one family the father was a heterozygote of TATA box nt-28 （A→G）/N, mother was a heterozygote of CD 41-42 （-CTTT）/ N and the fetus was normal. In another family,the father was a heterozygote of CD 41-42 （-CTTT）/ N, mother was a heterozygote of CD71-72 （＋A）/N and the fetus was a dual heterozygote of CD41-42 （-CTTT）/CD71-72（＋A） . Conclusion： allele-specific PCR can be successfully applied to the prenatal gene diagnosis of high risky fetus with β- thalassemia, and it has an important significance in prevention of the birth of severe β- thalassemia fetus.
出处
《海南医学院学报》
CAS
2007年第1期8-10,32,共4页
Journal of Hainan Medical University
基金
海南省教育厅资助课题(NO.1998-28)
海南医学院重点学科资助课题(海医学[2005]46号)
关键词
贫血
珠蛋白生成障碍性
聚合酶链反应
产前诊断
Anemia, dysfunction of globin production
Polymerase chain reaction
Prenatal diagnosis
作者简介
[通讯作者]蔡望伟，海南医学院生物化学教研室（571101）。Tel：（0898）66893779
