DNA damage and related modifier genes in Italian Cystic fibrosis patients
Biol. Res
;
42(4): 477-486, 2009. tab
Artigo
em Inglês
| LILACS
| ID: lil-537107
ABSTRACT
Cystic Fibrosis (CF) is an autosomal recessive multisystemic disorder showing a highly heterogeneous phenotype, even among siblings carrying identical CFTR mutations. Moreover, oxidative stress is of central importance in the pathogenesis of cystic fibrosis. The present study seeks to value the presence of oxidative damage in CF patients and the possible modifier effect of repair and glutathione-S-transferase genes. We analysed the presence of DNA damage in leukocytes of 63 CF patients at an Italian CF centre and 63 controls, through the alkaline Comet assay to detect DNA strand breaks. Furthermore, controls and 93 CF subjects were genotyped for 5 genes by RFLP-PCR (XRCC1,0GG1,GSTP1) and PCR assay (GSTM1, GSTT1). No difference in Comet assay values was observed comparing controls to CF patients, although CF subjects showed slightly higher mean values. The crude Odds-Ratio (OR) was higher than one for XRCC1 and GSTP1 genotypes and liver status and for XRCC1 and OGG1 genotypes and pancreatic insufficiency, but in all cases the p-values were not significant. In this case-control study, neither DNA damage ñor gene polymorphisms seem to influence CF manifestation.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Dano ao DNA
/
Fibrose Cística
/
DNA Glicosilases
/
Proteínas de Ligação a DNA
/
Glutationa Transferase
Tipo de estudo:
Estudo observacional
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Europa
Idioma:
Inglês
Revista:
Biol. Res
Assunto da revista:
Biologia
Ano de publicação:
2009
Tipo de documento:
Artigo
País de afiliação:
Itália
Instituição/País de afiliação:
ENEA Casaccia/IT
/
Ospedale Bambino Gesù/IT
/
Università degli Studi Roma TRE/IT
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