http://www.cnr.it/ontology/cnr/individuo/prodotto/ID230736
Origin Heterogeneity of Hb Lepore-Boston Gene in Italy (Articolo in rivista)
- Type
- Label
- Origin Heterogeneity of Hb Lepore-Boston Gene in Italy (Articolo in rivista) (literal)
- Anno
- 1992-01-01T00:00:00+01:00 (literal)
- Alternative label
G. Fioretti, M. De Angioletti, F. Masciangelo, G. Lacerra, A. Scarallo, C. de Bonis
L. Pagano, E. Guarino, L. De Rosa, F. Salvati, and C. Carestia (1992)
Origin Heterogeneity of Hb Lepore-Boston Gene in Italy
in American journal of human genetics; Cell Press, Cambridge (Stati Uniti d'America)
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- G. Fioretti, M. De Angioletti, F. Masciangelo, G. Lacerra, A. Scarallo, C. de Bonis
L. Pagano, E. Guarino, L. De Rosa, F. Salvati, and C. Carestia (literal)
- Pagina inizio
- Pagina fine
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682630/pdf/ajhg00075-0124.pdf (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
- Note
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Centro Microcitemie, Ospedale A. Cardarelli; Istituto Internazionale di Genetica e Biofisica, CNR, Naples;
Ospedale Civico Renzetti, Lanciano (CH), Italy (literal)
- Titolo
- Origin Heterogeneity of Hb Lepore-Boston Gene in Italy (literal)
- Abstract
- Forty-three hybrid delta beta-globin genes were characterized by DNA sequence analysis and associated RFLP
haplotypes in 40 families from Abruzzo and Campania, which are on the east and west coast of Italy,
respectively. All the genes had the delta-globin sequence up to the exon 2 codon 87 and had the beta-globin sequence
from IVS-2-8; between these two ends, they had 58 bp in common with the delta- and beta-globin genes. Thus,
they were all of the Lepore-Boston type. A chromosomal background heterogeneity was present among the
mutant genes. In fact, they were all associated with ( + - - - - ) 5' subhaplotype, but 23 / 31 from Campania
were associated with (+ +) 3' subhaplotype, whereas 12/12 genes from Abruzzo and 8/31 from Campania
were associated with (+ -). DNA sequencing of homozygous subjects showed that (+ +) 3' subhaplotype
was associated, at IVS-2-74, with G, while (+ -) was associated with T; that is, they were associated with
the beta-globin gene sequence of frameworks 1 and 2, respectively. The molecular characteristics of this heterogeneity,
as well as its geographical patterns in the eastern and western regions of Italy, represent strong evidence
for the recurrent and multicentric origins of the mutation. (literal)
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- Autore CNR
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