http://www.cnr.it/ontology/cnr/individuo/prodotto/ID26489
Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (Articolo in rivista)
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- Label
- 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)
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- De Angioletti M; Lacerra G; Gaudiano C; Mastrolonardo G; Pagano L; Mastrullo L; Masciandaro S; Carestia C. (literal)
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- Risultati ottenuti attraverso una rete di ricerca tra CNR ed istituti ospedalieri sul territorio. (literal)
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- L'articolo definisce la base molecolare della delta talassemia in due grandi aree del mezzogiorno. (literal)
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- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- 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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