Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gγ and Aγ types of γ chain

A. Kutlar, M. B. Gardiner, M. G. Headlee, A. L. Reese, M. P. Cleek, S. Nagle, P. K. Sukumaran, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

Abstract

Restriction endonuclease analyses of DNA from one Black GγAγ-HPFH homozygote and four Black and one Indian GγAγ-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the δ and β genes. Two of the types are comparable to those characterized previously, but the third, which is present in the Indian heterozygote, shows a distinct difference in the size of the deletion. The 5′ end point of the deletion in this type III GγAγ-HPFH extends 0.5-1.0 kb beyond the 5′ end point of one of the Black types of HPFH (type I). Each of the three types is associated with a distinct ratio between the Gγ and the Aγ chains, an observation supported by family data. The highest ratio is found in the heterozygote with the Indian type III GγAγ-HPFH, with 69.3% Gγ chains, while the averages for the other types were 50.7% Gγ (type I) and 32.3% Gγ (type II).

Original languageEnglish (US)
Pages (from-to)21-35
Number of pages15
JournalBiochemical Genetics
Volume22
Issue number1-2
DOIs
StatePublished - Feb 1 1984

Keywords

  • DNA
  • different types of HPFH
  • family data
  • hereditary persistence of fetal hemoglobin
  • in vitro chain synthesis
  • restriction endonucleases
  • γ:γ ratio

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint

Dive into the research topics of 'Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the Gγ and Aγ types of γ chain'. Together they form a unique fingerprint.

Cite this