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

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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

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thalassemia
Gene Order
Thalassemia
Globins
Chromosomes
Polymorphism
linkage (genetics)
chromosome
neonates
polymorphism
Genes
genetic polymorphism
chromosomes
DNA
Haplotypes
gene
mutation
haplotypes
genes
Mutation

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

Cite this

Hattori, Y., Kutlar, F., Chen, S. S., Huisman, T. H. J., Demuro, P., Formato, M., ... Masala, B. (1986). DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia. Biochemical Genetics, 24(9-10), 669-681. https://doi.org/10.1007/BF00499001

DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia. / Hattori, Y.; Kutlar, Ferdane; Chen, S. S.; Huisman, T. H.J.; Demuro, P.; Formato, M.; Manca, L.; Masala, B.

In: Biochemical Genetics, Vol. 24, No. 9-10, 01.10.1986, p. 669-681.

Research output: Contribution to journalArticle

Hattori, Y, Kutlar, F, Chen, SS, Huisman, THJ, Demuro, P, Formato, M, Manca, L & Masala, B 1986, 'DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia', Biochemical Genetics, vol. 24, no. 9-10, pp. 669-681. https://doi.org/10.1007/BF00499001
Hattori, Y. ; Kutlar, Ferdane ; Chen, S. S. ; Huisman, T. H.J. ; Demuro, P. ; Formato, M. ; Manca, L. ; Masala, B. / DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia. In: Biochemical Genetics. 1986 ; Vol. 24, No. 9-10. pp. 669-681.
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