RAPID DIAGNOSIS OF BETA-THALASSEMIA BY MUTAGENICALLY SEPARATED POLYMERASE CHAIN-REACTION (MS-PCR) AND ITS APPLICATION TO PRENATAL-DIAGNOSIS

Citation
Jg. Chang et al., RAPID DIAGNOSIS OF BETA-THALASSEMIA BY MUTAGENICALLY SEPARATED POLYMERASE CHAIN-REACTION (MS-PCR) AND ITS APPLICATION TO PRENATAL-DIAGNOSIS, British Journal of Haematology, 91(3), 1995, pp. 602-607
Citations number
24
Categorie Soggetti
Hematology
ISSN journal
00071048
Volume
91
Issue
3
Year of publication
1995
Pages
602 - 607
Database
ISI
SICI code
0007-1048(1995)91:3<602:RDOBBM>2.0.ZU;2-Q
Abstract
We have developed a rapid and simple PCR-based method which is modifie d fi om the mutagenically separated polymerase chain reaction (MS-PCR) to detect the molecular defects of beta-thalassaemia. We can use this technique to amplify normal and mutant alleles of the beta-globin gen e in the same reaction tube, using different-sized allele-specific pri mers, This mutagenesis separates the amplification reactions of allele s performed in the same tube. Subsequent gel electrophoresis shows at least one of the two allelic products at the same locus or at least tw o of the several allelic products at different loci. Therefore, in add ition to simple handling, MS-PCR provides a within-assay quality contr ol for the exclusion of false negative results. The five most common m utations of beta-thalassaemia and haemoglobin E which occur in the Tai wanese population were tested, and 14 prenatal samples were checked wi th accurate results. This method is simple, rapid and accurate, and ca n be used routinely in prenatal diagnosis. The principle used here can also be applied to other genetic diseases.