Delineation of specific beta-thalassemia mutations in high-risk areas of
Italy: a prerequisite for prenatal diagnosis
M Pirastu, G Saglio, C Camaschella, A Loi, A Serra, T Bertero, W Gabutti and A Cao
Istituto di Ricerche sulle Talassemie ed Anemie Mediterranee-CNR, Cagliari,
Italy.
In this study, we defined by haplotype characterization combined with
oligonucleotide hybridization or direct restriction endonuclease analysis
the specific beta-thalassemia mutations in a representative sample of
beta-thalassemia chromosomes from patients with homozygous beta-thalassemia
originating from different parts of Italy. We characterized the mutations
in 90% of the thalassemia chromosomes and found that three mutations,
namely the beta+IVS 1-110, beta degrees -39 and beta+IVS 1-6 are prevalent
in the Italian population. Most of the patients investigated were compound
heterozygotes for two beta- thalassemia mutations, and only a few were
homozygotes for one mutant. On the basis of these findings, we predict that
prenatal diagnosis in this population would be feasible in most cases by
fetal DNA analysis with the oligonucleotide method using a limited number
of oligonucleotide probes selected after screening parents for the most
common beta-thalassemia mutations. We have also devised a method based on
hybridization with a mixture of two oligonucleotides that allows rapid and
simultaneous screening of prospective parents for the two most frequent
mutations in Italians, the beta+IVS 1-110 and beta degrees -39 mutants.
This method may be applicable to prenatal diagnosis in cases at risk for
the genetic compound of these mutations.
Volume 71,
Issue 4,
pp. 983-988,
04/01/1988
Copyright © 1988 by The American Society of Hematology
