Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping.

Journal Article (Journal Article)

Twenty-six DNA samples from individuals either heterozygous or homozygous for beta thalassemia were analyzed by restriction endonuclease digestion, agarose gel electrophoresis, and Southern blot analysis to define DNA fragments containing portions or all of the beta globin gene. A total of twenty-seven genes affected by a beta thalassemia mutation and twenty-seven genes affected by a beta thalassemia mutation and twenty-two normal beta globin genes were examined in Italian, Greek, or Asian individuals. With all four restriction endonucleases used, the fragments generated from DNA of thalassemic individuals were identical to those found in DNA from normal. Thus, gross rearrangement or deletion within the genomic region containing the beta globin gene is not characteristic of mutations which cause a thalassemia. A third patient homozygous for pancellular hereditary persistence of fetal hemoglobin was shown to have complete deletion of the delta and beta globin genes.

Full Text

Duke Authors

Cited Authors

  • Tam, JW; Kaufman, RE; Nienhuis, AW

Published Date

  • 1981

Published In

Volume / Issue

  • 5 / 3

Start / End Page

  • 209 - 215

PubMed ID

  • 6164667

International Standard Serial Number (ISSN)

  • 0363-0269

Digital Object Identifier (DOI)

  • 10.3109/03630268108997545


  • eng

Conference Location

  • England