DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia

Y. Hattori, F. Kutlar, S. S. Chen, T. H.J. Huisman, P. Demuro, M. Formato, L. Manca, B. Masala

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the -GAγ- hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the -Gγ-AGγ-Aγ- triplication had polymorphic sites to be expected for this condition, being complimentary to the -GAγ- thalassemias. Of the two additional γ globin gene variations the -Gγ-Gγ- arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the -Aγ-Aγ- arrangement had a haplotype characteristic for that with the AγT mutation, which identified an -Aγ-AγT- arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.

Original languageEnglish (US)
Pages (from-to)669-681
Number of pages13
JournalBiochemical Genetics
Volume24
Issue number9-10
DOIs
StatePublished - Oct 1 1986

Keywords

  • -γ-γ- and -γ-γ- arrangements
  • F-Sardinia
  • fetal hemoglobin
  • haplotypes
  • silent β-chain variant
  • the γ chain
  • β-thalassemia
  • γ globin gene deletion
  • γ globin gene triplication

ASJC Scopus subject areas

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

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