Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA

S. Amselem, V. Nunes, M. Vidaud, Xavier P. Estivill, C. Wong, L. d'Auriol, D. Vidaud, F. Galibert, M. Baiget, M. Goossens

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

We have delineated the molecular lesions causing β-thalassemia in Spain, a country that has witnessed the passage of different Mediterranean populations over the centuries, in order to evaluate the extent of heterogeneity of these mutations and to make possible simplified prenatal diagnosis of the disorder in that country. The use of the polymerase chain-reaction (PCR) technique to preferentially amplify β-globin DNA sequences that contain the most frequent β-thalassemia mutations in Mediterraneans enabled us to rapidly analyze 58 β-thalassemia alleles in a dot-blot format either by hybridization with allele-specific radiolabeled oligonucleotide probes or by direct sequence analysis of the amplification product. The Spanish population carries seven different β-thalassemia mutations; the nonsense codon 39 is predominant (64%), whereas the IVS1 position 110 mutation, the most common cause of β-thalassemia in the eastern part of the Mediterranean basin, is underrepresented (8.5%). The IVS1 mutation at position 6 accounts for 15% of the defects and leads to a more severe form of β+-thalassemia than originally described in most of the patients we studied. In this study, we demonstrate further the usefulness of the dot-blot hybridization of PCR-amplified genomic DNA in both rapid population surveys and prenatal diagnosis of β-thalassemia.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalAmerican Journal of Human Genetics
Volume43
Issue number1
Publication statusPublished - 1988
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Amselem, S., Nunes, V., Vidaud, M., Estivill, X. P., Wong, C., d'Auriol, L., Vidaud, D., Galibert, F., Baiget, M., & Goossens, M. (1988). Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA. American Journal of Human Genetics, 43(1), 95-100.