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

Publication ,  Journal Article
Tam, JW; Kaufman, RE; Nienhuis, AW
Published in: Hemoglobin
1981

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.

Duke Scholars

Published In

Hemoglobin

DOI

ISSN

0363-0269

Publication Date

1981

Volume

5

Issue

3

Start / End Page

209 / 215

Location

England

Related Subject Headings

  • Thalassemia
  • Immunology
  • Humans
  • Homozygote
  • Heterozygote
  • Globins
  • Genotype
  • Fetal Hemoglobin
  • DNA Restriction Enzymes
  • DNA
 

Citation

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Tam, J. W., Kaufman, R. E., & Nienhuis, A. W. (1981). Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping. Hemoglobin, 5(3), 209–215. https://doi.org/10.3109/03630268108997545
Tam, J. W., R. E. Kaufman, and A. W. Nienhuis. “Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping.Hemoglobin 5, no. 3 (1981): 209–15. https://doi.org/10.3109/03630268108997545.
Tam, J. W., et al. “Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping.Hemoglobin, vol. 5, no. 3, 1981, pp. 209–15. Pubmed, doi:10.3109/03630268108997545.
Journal cover image

Published In

Hemoglobin

DOI

ISSN

0363-0269

Publication Date

1981

Volume

5

Issue

3

Start / End Page

209 / 215

Location

England

Related Subject Headings

  • Thalassemia
  • Immunology
  • Humans
  • Homozygote
  • Heterozygote
  • Globins
  • Genotype
  • Fetal Hemoglobin
  • DNA Restriction Enzymes
  • DNA