Simple fluorescent PCR method for detection of large deletions in the β-globin gene cluster

Abstract

We developed a semi-automated approach to detect large deletions in the β-globin gene cluster, based on the quantitative differences in the amplifications of samples by a fluorescent PCR. With this strategy, we were able to detect the presence of HPFH-2 in an African-Brazilian subject, confirmed by sequencing analysis. Differently from other PCR strategies, GAP-PCR for example, it has the potential to identify new deletions. © 2003 Wiley-Liss, Inc.