Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene

Genomics. 1991 Jun;10(2):509-11. doi: 10.1016/0888-7543(91)90344-e.

Abstract

The precise extent and breakpoints of a deletion of the beta-globin gene in a Thai patient have been determined using direct sequencing of a PCR product. This lesion is not detectable by current screening methods using PCR to analyze the beta-globin genes and is, therefore, a potential source of error in the diagnosis and prenatal detection of beta-thalassemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • DNA
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA