RAPID PRENATAL DIAGNOSIS OF FIVE COMMOM MUTATIONS OF BETA-THALASSEMIA IN THE CHINESE BY MULTIPLEX ALLELE-SPECIFIC PCR

Objective To detect five common types of β-thalassemia mutations [(CD71-72(+A),CD41-42(-4bp),CD17→0,IVS-Ⅱ-654C→T and-28A→G)] in the Chinese by using multiplex allele-specific PCR(MASPCR) and assess the reliability of this new technique. Methods Aiming directly at wild types and mutation types of β-globin alleles,MASPCR was performed in a single tube to make a prenatal detection of the common five kinds of point mutations of β-thalassemia. Results Seventeen cases in 24 of eight families were heterozygoted with at least one mutation allele.Among the fetus,one was double heterozygotes of β-thalassemia mutations,five single heterozygotes,and two normal.All were confirmed later by gene analysis after delivery or abortion,which coincided with the prenatal diagnosis. Conclusion This testing method can be used for detection of characterized point mutations in β-thalassemia,which is convenient,reliable and economical for prenatal gene diagnosis of β-thalassemia with a broad prospect in aristogenesis.