应用PCR技术检测α－地中海贫血SEA型携带者  

Carrier detection of alpha-thalassemia of Southeast Asian deletion by PCR technique

作　　者：温俊娥 毛裕民[1] 杨树青[1] 张宏[1] 

机构地区：[1]复旦大学遗传学研究所

出　　处：《复旦学报（自然科学版）》1994年第2期133-138,共6页Journal of Fudan University：Natural Science

基　　金：上海市经委资助

摘　　要：ＳＥＡ型α—地中海贫血症在东南亚地区很普遍，在我国广西壮族自治区，发病率也很高．应用跨越ＳＥＡ型５＇端和３＇端缺失断裂点的三个引物进行ＰＣＲ扩增，在有该缺失的染色体上扩增一条１９４ｂｐ的特异条带，在无该缺失的染色体上扩增一条２８７ｂｐ的特异条带，可以清楚地区分ＳＥＡ型缺失杂合子、纯合子和正常个体．检测４０例α—地中海贫血症患者的结果表明：ＳＥＡ型缺失杂合子２８例（７０％）、ＳＥＡ型缺失纯合子１例（２５％）、非ＳＥＡ型缺失携带者１１例（２７５％）．实验证明，在ＳＥＡ缺失的高发区，此法在临床上具有实际应用价值．lpha-thalassemia of Southeast Asian deletion (--SEA) is very common in Southeast Asian. In China, the highest prevalence of alpha-thalassemia is in the Guangxi Zhuang Automony Region. Using polymerase chain reaction with three oligonucleotide primers bridging the deletion breakpoint, a DNA fragment of 194 bp was amplified in chromosomes with the--SEA determinant and a DNA fragment of 287 bp was amplified in chromosomes without this deletion. Thus homozygotes, heterozygotes of the--SEA deletion and normal subjects were distinguished clearly. In forty cases of alpha-thalassemia, twenty-eight (70%) were diagnosed as heterozygotes, one (2.5%) as homozygotes of --SEA, and eleven (27.5%) as other deletion carriers. This technique has a high applicative potential in clinics.

关 键 词：聚合酶链反应 SEA型 地中海贫血 

分 类 号：R556.610.4[医药卫生—血液循环系统疾病]