The spectrum of β-thalassaemia mutations in Sicily

R. Di Marzo, C. E. Dowling, C. Wong, A. Maggio, Haig Kazazian

Research output: Contribution to journalArticle

Abstract

To characterize β-thalassaemia genes among the Sicilian population we have previously determined the DNA haplotypes in the β-globin gene cluster of 99 β-thal chromosomes. We found seven haplotypes, although 95 of 99 β-thal chromosomes contained framework 1 and framework 3 β genes. We have now determined the mutation in all 99 of these β-thal genes by the use of oligonucleotide hybridization, PCR-amplification and direct genomic sequencing, and direct restriction analysis. Our results indicate that (1) the β°-39 mutation is most frequent (35%): (2) β°-39, IVS-1 nt 110 and IVS-1 nt 6 mutations account for 90% of β-thal genes: (3) the IVS-1 nt 6 mutation is more frequent in thalassaemia intermedia (77%) than in Cooley's disease (34%): (4) the association between haplotypes and specific mutations is imperfect, but mutation spread has occurred within haplotypes containing the same β-gene framework: (5) the β°-39 and the IVS-1 nt 6 mutations, with a mutation spread to two major haplotypes, may be older than the IVS-1 nt 110 mutation: (6) these data make possible first-trimester prenatal diagnosis in many families (85%) in Sicily using only three pairs of oligonucleotides. In addition, a new mutation, a frameshift at codon 76 due to loss of a C residue, was found in a single β-thal chromosome.

Original languageEnglish (US)
Pages (from-to)393-397
Number of pages5
JournalBritish Journal of Haematology
Volume69
Issue number3
StatePublished - 1988
Externally publishedYes

Fingerprint

Sicily
Thalassemia
Mutation
Haplotypes
Chromosomes
Genes
Oligonucleotides
Frameshift Mutation
Globins
beta-Thalassemia
First Pregnancy Trimester
Multigene Family
Prenatal Diagnosis
Codon
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Hematology

Cite this

Di Marzo, R., Dowling, C. E., Wong, C., Maggio, A., & Kazazian, H. (1988). The spectrum of β-thalassaemia mutations in Sicily. British Journal of Haematology, 69(3), 393-397.

The spectrum of β-thalassaemia mutations in Sicily. / Di Marzo, R.; Dowling, C. E.; Wong, C.; Maggio, A.; Kazazian, Haig.

In: British Journal of Haematology, Vol. 69, No. 3, 1988, p. 393-397.

Research output: Contribution to journalArticle

Di Marzo, R, Dowling, CE, Wong, C, Maggio, A & Kazazian, H 1988, 'The spectrum of β-thalassaemia mutations in Sicily', British Journal of Haematology, vol. 69, no. 3, pp. 393-397.
Di Marzo R, Dowling CE, Wong C, Maggio A, Kazazian H. The spectrum of β-thalassaemia mutations in Sicily. British Journal of Haematology. 1988;69(3):393-397.
Di Marzo, R. ; Dowling, C. E. ; Wong, C. ; Maggio, A. ; Kazazian, Haig. / The spectrum of β-thalassaemia mutations in Sicily. In: British Journal of Haematology. 1988 ; Vol. 69, No. 3. pp. 393-397.
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