Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. (Articolo in rivista) (literal)

Anno

• 2005-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/ajhb.20442 (literal)

Alternative label

• Piras I, Vona G, Falchi A, Latini V, Ristaldi S, Vacca L, Varesi L, Calo CM (2005)
  Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy.
  in American journal of human biology
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Piras I, Vona G, Falchi A, Latini V, Ristaldi S, Vacca L, Varesi L, Calo CM (literal)

Pagina inizio

• 765 (literal)

Pagina fine

• 772 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 17 (literal)

Rivista

• American journal of human biology (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1.Department of Experimental Biology, Section of Anthropological Sciences, University of Cagliari 2.INN - CNR - Cagliari (literal)

Titolo

• Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. (literal)

Abstract

• Seven polymorphic sites in the beta-globin cluster in association with specific thalassemia mutations were analyzed in a sample from Sardinia, Italy. In order to verify previous works carried out on normal samples (beta(A)/beta(A)) and family studies on beta-thalassemia homozygotes individuals, the haplotype frequencies in both normal individuals (beta(A)/beta(A)) and beta(0)39-thalassemia carriers (beta(A)/beta0) were studied. In our work chromosomes carrying beta(0)39 mutation are characterized by a prevalence of haplotype II (- + + - + + +) (52%) relative to haplotype I (+- - - - + +) (29%), in contrast, among chromosomes with beta(A) the frequency of haplotype I is much greater than that of haplotype II. These data confirm what was found by other authors. Nevertheless, our results disagree with those of previous studies of Sardinians, both in frequencies values and in the numbers of haplotypes identified. Population analysis performed with samples carrying the beta-thalassemic mutation highlighted the peculiarity of Sardinians with respect to other Mediterranean populations. The Corsican population is most similar to the Sardinian population, confirming previous analyses performed with both classical markers and mitochondrial and genomic DNA (literal)

Prodotto di

• La Talassemia. La malattia monogenica più diffusa in sardegna: patologia molecolare, clinica e terapia. (ME.P03.008.001) (Modulo)
• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)

Autore CNR

• MARIA SERAFINA RISTALDI (Unità di personale interno)

Incoming links:

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• La Talassemia. La malattia monogenica più diffusa in sardegna: patologia molecolare, clinica e terapia. (ME.P03.008.001) (Modulo)

Autore CNR di

• MARIA SERAFINA RISTALDI (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• American journal of human biology (Rivista)