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 journalArticle

48 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 <sup>G</sup>γ and <sup>A</sup>γ types of γ chain'. Together they form a unique fingerprint.

  • Cite this