Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (Articolo in rivista)

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  • Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (Articolo in rivista) (literal)
Anno
  • 2002-01-01T00:00:00+01:00 (literal)
Alternative label
  • De Angioletti M; Lacerra G; Gaudiano C; Mastrolonardo G; Pagano L; Mastrullo L; Masciandaro S; Carestia C. (2002)
    Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features
    in Human mutation
    (literal)
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  • De Angioletti M; Lacerra G; Gaudiano C; Mastrolonardo G; Pagano L; Mastrullo L; Masciandaro S; Carestia C. (literal)
Pagina inizio
  • 358 (literal)
Pagina fine
  • 367 (literal)
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  • Risultati ottenuti attraverso una rete di ricerca tra CNR ed istituti ospedalieri sul territorio. (literal)
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  • 20 (literal)
Rivista
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  • L'articolo definisce la base molecolare della delta talassemia in due grandi aree del mezzogiorno. (literal)
Note
  • ISI Web of Science (WOS) (literal)
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  • Istituto di Genetica e Biofisica ''Adriano Buzzati Traverso,'' Napoli, Italy; Centro per la Lotta alla Microcitemia, ASL IV, Matera, Italy; Ospedale ''A. Cardarelli,'' Sezione di Microcitemia ''A. Mastrobuoni,'' Napoli, Italy; Ospedale S. Giovanni Bosco, Divisione di Ematologia, Napoli, Italy (literal)
Titolo
  • Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (literal)
Abstract
  • We characterized mutations and haplotypes of the delta-globin gene (HBD, MIM# 142000) in two regions of southern Italy. Mutations were discovered by screening for individuals with Hb A2<2%. In Basilicata, about 10,000 students were screened and 53 carriers in 43 unrelated families were diagnosed; in Campania, cases were referred through a routine thalassemia counseling service. Twelve alleles were detected. Four were novel variants [Hb A2-Metaponto (g.238C>A), Hb A2-Campania (g.302C>A), Hb A2-Lucania (g.393C>G), and Hb A2-Capri (g.443G>T)]. Hb A2-Lucania was not inherited but had arisen in the propositus. Two were novel mutations in the noncoding regions: the substitutions IVS2+6T>A, presumably affecting the splicing, and g.-126A>T in the GATA motif presumably affecting transcription. All novel alleles were found associated with haplotypes common in the Mediterranean area. The remaining six were alleles already described. The Hb A2-Yialousa (g.82G>T) was the most prevalent (42/63 families). Recurrent homologous crossing-over events have, most likely, linked this allele to Haplotypes IX (24 families), IV (10 families), or III (seven families). The ratio of Haplotypes IX:IV:III was about the same in the two regions. The rare allele Hb A2-NYU (g.39T>A) was found in 11 families from Basilicata associated with Haplotype I. All the 11 families lived in a restricted area extending from the Ionian Coast for 15 km along the Angri and Sinni Rivers. A founder effect most probably gave origin to this isolated group. The remaining four alleles were rare: the 7.2-kb deletion Corfu type (HBD g.-5946_1262del), Hb A2-Mitsero (g.14C>T), Hb A2-Etolia (g.385T>C), Hb A2-Coburg (g.1376G>A). Correlation between genotype and phenotype was established in 103 carriers. (literal)
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