Consulta: subjectFacets:"Globin genes"
Registros recuperados: 2
Data/hora: 02/06/2024 04:37:36

Biochemical and molecular investigations on qualitative and quantitative Hb polymorphism in the river buffalo (Bubalus bubalis L.) population reared in Southern Italy
Provedor de dados: 74
Autores: Iorio,Mario; Vincenti,Donatella; Annunziata,Mario; Rullo,Rosario; Bonamassa,Raffaele; Di Luccia,Aldo; Pieragostini,Elisa.
On 398 river buffalo samples, randomly collected in distinct breeding areas of the Campania region, high-resolution analytical systems were used to identify both qualitative and quantitative variations of the Hb phenotype. Polyacrylamide gel isoelectric focusing and HPLC were used to determine the ratio between HBA1 and HBA2 globin chains; restriction endonuclease analysis was performed to assess whether quantitative variations in Hb bands were related to an unusual number of a-globin genes. In the two buffalo subpopulations, allele frequencies of the alpha and beta globin systems were calculated, and F statistics (FIS, FIT and FST) were estimated as parameters of genetic diversity. The results suggest that: i) as shown by RFLP analysis, only a couple of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Phenotype; RFLP; Globin genes; Haplotype; Gene frequencies.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200007

Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil
Provedor de dados: 56
Autores: Andrade,T.G. de; Fattori,A.; Saad,S.T.O.; Sonati,M.F.; Costa,F.F.
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (dß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (dß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(dß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Thalassemia; Sickle cell; Hereditary persistence of fetal hemoglobin; Globin genes; Sicilian thalassemia.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800003