应用PCR技术诊断缺失型α地中海贫血的新方法

A NEW DIAGNOSTIC METHOD OF DELETED ALPHA-THALASSEMIA BY POLYMERASE CHAIN REACTION

应用α珠蛋白基因特异性引物的聚合酶链式反应(PCR)技术,分别扩增α珠蛋白基因簇中的α_1和α_2基因片段,与所做的2例 Hb Bart's水肿胎儿综合征和1例已做产前诊断α地贫1家系得到的α、ζ珠蛋白基因图谱结果相对照,取得一致的诊断结果。

Alpha-thalassemia of southeast asian deletion(-SEA/)is very common in china.Homozygosity of this genotype is the major cause of Hb Bart's hydrops fetalis in Guangxi Region.Polymerase chain reaction with three oligonucleotide primers was utilized in bridging the common deleted breakpoint.Oligonucleotide primers were chosen because they allowed specific indentifica-tion of both normal(αα)and abnormal(-SEA/)hromosomes under indentical conditions in either the same or parallel PCR reactions.PCR determination of(-SEA/)deletion is straightforward and much quicker and easier than the conventional southern blotting and DNA hybridization method.In areas with a high prevalence of(-SEA/)deletion,this method provides a rapid tool for carrier de-tection and prenatal diagnosis.