β‐Thalassaemia in Campania: DNA polymorphism analysis in β A and βthat chromosomes and its usefulness in prenatal diagnosis
1987; Wiley; Volume: 67; Issue: 2 Linguagem: Inglês
10.1111/j.1365-2141.1987.00231.x
ISSN1365-2141
AutoresClementina Carestia, Livio Pagano, G. F Ioretti, A Mastrobuoni,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoSummary In order to evaluate the feasibility of first trimester prenatal diagnosis of β‐thalassaemia by restriction fragment length polymorphism (RFLP) in Campania, one of the most affected regions in Southern Italy, DNA polymorphism analysis was performed on 40 unrelated patients, affected with homozygous β‐thalassaemia, and on their parents. Frequency of the presence of the Hinc II ε, Hind III G γ and A γ, Hinc II SPSβ and SPSβ, Ava II SPSβ, Ava II β and Bam HI 3′β sites have been determined in the β A and β that chromosome samples. In 31 families (over 75%). RFLPs enabled tracing the β‐thalassaemia mutations in both father and mother (100% diagnosis). In the remaining nine families, RFLPs enabled tracing only one of the two mutations (50% diagnosis) because the other parent was found to be homozygous in all the analysed polymorphic sites. Restriction haplotypes, assembled on the basis of linkage analysis, were most heterogeneous, hence a wide heterogeneity of mutations is expected.
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