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A unique origin for Sicilian (δβ)∘-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

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Abstract

Direct sequencing and restriction enzyme digestion of the polymerase chain reaction (PCR) product encompassing the breakpoint were used to characterize the Sicilian (δβ)∘-thalassemia deletion in 33 unrelated Italian subjects. All cases showed the same sequencing features at the breakpoint region, suggesting a unique origin for this deletion in Italy. We also describe a one-step PCR assay for the rapid screening of homozygotes and carriers of Sicilian (δβ)∘-thalassemia by the simultaneous use of three specific oligonucleotides. This procedure could have an impact on genetic counseling of couples at risk for this type of thalassemia, and with respect to compound heterozygotes bearing a Sicilian chromosome.

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Authors and Affiliations

  1. Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge-Biotecnologie Avanzate, Università di Napoli “Federico II”, Via Pansini 5, I-80131, Naples, Italy

    Gabriella Esposito, Michela Grosso, Paola Izzo & Francesco Salvatore

  2. Dipartimento di Scienze Biomediche ed Oncologia Umana, Università degli Studi di Torino, Sezione Clinica, Ospedale S. Luigi Gonzaga, Regione Gonzole 10, I-10043, Orbassano, Turin, Italy

    Enrico Gottardi & Clara Camaschella

  3. CNR CII CIOS, Turin, Italy

    Clara Camaschella

Authors
  1. Gabriella Esposito
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  2. Michela Grosso
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  3. Enrico Gottardi
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  4. Paola Izzo
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  5. Clara Camaschella
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  6. Francesco Salvatore
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Esposito, G., Grosso, M., Gottardi, E. et al. A unique origin for Sicilian (δβ)∘-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. Hum Genet 93, 691–693 (1994). https://doi.org/10.1007/BF00201572

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  • DOI: https://doi.org/10.1007/BF00201572

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