Data/hora: 09/06/2024 02:50:49

Provedor de dados: 	56	
País: 	Brazil	
Título: 	Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients	
Autores: 	Adorno,E.V.; Moura-Neto,J.P.; Lyra,I.; Zanette,A.; Santos,L.F.O.; Seixas,M.O.; Reis,M.G.; Goncalves,M.S.	
Data: 	2008-02-01	
Ano: 	2008	
Palavras-chave: 	Fetal hemoglobin; Sickle cell anemia; SSS-globin gene haplotypes; Locus control region; G-globin promoter.	
Resumo: 	The fetal hemoglobin (HbF) levels and ßS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2%) patients had CAR/Ben genotype; 36 (28.8%) Ben/Ben; 18 (14.4%) CAR/CAR; 2 (1.6%) CAR/Atypical; 2 (1.6%) Ben/Cam; 1 (0.8%) CAR/Cam; 1 (0.8%) CAR/Arab-Indian, and 1 (0.8%) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G&gt;A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T&gt;C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.	
Tipo: 	Info:eu-repo/semantics/other	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200003	
Editor: 	Associação Brasileira de Divulgação Científica	
Relação: 	10.1590/S0100-879X2008005000002	
Formato: 	text/html	
Fonte: 	Brazilian Journal of Medical and Biological Research  v.41 n.2 2008	
Fonte: 	info:eu-repo/semantics/openAccess