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

Am J Hematol. 2003 Mar;72(3):225-7. doi: 10.1002/ajh.10291.

Abstract

We developed a semi-automated approach to detect large deletions in the beta-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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa / ethnology
  • Brazil
  • Fetal Hemoglobin / analysis
  • Fluorescent Dyes
  • Gene Deletion*
  • Globins / genetics*
  • Hematologic Diseases / genetics
  • Humans
  • Polymerase Chain Reaction / methods*
  • Thalassemia / genetics

Substances

  • Fluorescent Dyes
  • Globins
  • Fetal Hemoglobin