http://www.cnr.it/ontology/cnr/individuo/prodotto/ID230579
Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families. (Articolo in rivista)
- Type
- Label
- Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families. (Articolo in rivista) (literal)
- Anno
- 1993-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.3109/03630269309043492 (literal)
- Alternative label
G. Lacerra1, G. Fioretti2, A. Hani3, D. Duka3, M. De Angioletti1, L. Pagano2, A. Viola2, S. Desicato2, P. Ferranti4, P. Pucci4, E. Boletini3 and C. Carestia1 (1993)
Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families.
in Hemoglobin
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- G. Lacerra1, G. Fioretti2, A. Hani3, D. Duka3, M. De Angioletti1, L. Pagano2, A. Viola2, S. Desicato2, P. Ferranti4, P. Pucci4, E. Boletini3 and C. Carestia1 (literal)
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- Pagina fine
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- http://informahealthcare.com/doi/abs/10.3109/03630269309043492 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
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- Note
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- 1 Istituto Internazionale di Genetica e Biofisica CNR, 80125, Napoli, Italia
2 Centro Microcitemia Ospedale A. Cardarelli, USL 40, 80131, Napoli, Italia
3 Istituto di Pediatria, Centro Emoglobinopatie Tirana, Albania
4 Servizio Spettrometria di Massa CNR, 80131, Napoli, Italia (literal)
- Titolo
- Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families. (literal)
- Abstract
- Hb O-Arab [beta 121(GH4)Glu-->Lys] was detected in two Mediterranean families, one from Southern Italy and the other from Albania. The GAA-->AAA mutation at codon 121 was characterized by DNA sequencing. The mutant genes were associated with the same beta-globin gene framework variant and with the rare Hpa I/3' beta polymorphic restriction site generating a 7.0 kb fragment. However, at 5' the gene of the Italian family was associated with the restriction fragment length polymorphism subhaplotype [+ - - - +] and the Taq I/3'G gamma polymorphic site, while that of the Albanian family was associated with subhaplotype [- - - - +] but not with the Taq I/3'G gamma site. The particular features of these polymorphisms support the hypothesis of an African origin for the Hb O-Arab gene and a subsequent recombination event leading to the haplotype found in the Italian family. (literal)
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- Autore CNR
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