DNA damage and related modifier genes in Italian Cystic fibrosis patients

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 pres...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	STERPONE,SILVIA, CORNETTA,TOMMASO, ANGIONI,ADRIANO, FISCARELLI,ERSILIA, LUCIDI,VINCENZINA, TESTA,ANTONELLA, COZZI,RENATA
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2009
Materias:	Comet assay cystic fibrosis DNA damage genetic polymorphisms modifier genes
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0716-97602009000400009
record_format	dspace
spelling	oai:scielo:S0716-976020090004000092010-03-17DNA damage and related modifier genes in Italian Cystic fibrosis patientsSTERPONE,SILVIACORNETTA,TOMMASOANGIONI,ADRIANOFISCARELLI,ERSILIALUCIDI,VINCENZINATESTA,ANTONELLACOZZI,RENATA Comet assay cystic fibrosis DNA damage genetic polymorphisms modifier genes 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.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.42 n.4 20092009-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009en10.4067/S0716-97602009000400009
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Comet assay cystic fibrosis DNA damage genetic polymorphisms modifier genes
spellingShingle	Comet assay cystic fibrosis DNA damage genetic polymorphisms modifier genes STERPONE,SILVIA CORNETTA,TOMMASO ANGIONI,ADRIANO FISCARELLI,ERSILIA LUCIDI,VINCENZINA TESTA,ANTONELLA COZZI,RENATA DNA damage and related modifier genes in Italian Cystic fibrosis patients
description	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.
author	STERPONE,SILVIA CORNETTA,TOMMASO ANGIONI,ADRIANO FISCARELLI,ERSILIA LUCIDI,VINCENZINA TESTA,ANTONELLA COZZI,RENATA
author_facet	STERPONE,SILVIA CORNETTA,TOMMASO ANGIONI,ADRIANO FISCARELLI,ERSILIA LUCIDI,VINCENZINA TESTA,ANTONELLA COZZI,RENATA
author_sort	STERPONE,SILVIA
title	DNA damage and related modifier genes in Italian Cystic fibrosis patients
title_short	DNA damage and related modifier genes in Italian Cystic fibrosis patients
title_full	DNA damage and related modifier genes in Italian Cystic fibrosis patients
title_fullStr	DNA damage and related modifier genes in Italian Cystic fibrosis patients
title_full_unstemmed	DNA damage and related modifier genes in Italian Cystic fibrosis patients
title_sort	dna damage and related modifier genes in italian cystic fibrosis patients
publisher	Sociedad de Biología de Chile
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009
work_keys_str_mv	AT sterponesilvia dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT cornettatommaso dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT angioniadriano dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT fiscarelliersilia dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT lucidivincenzina dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT testaantonella dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients AT cozzirenata dnadamageandrelatedmodifiergenesinitaliancysticfibrosispatients
_version_	1718441452964413440

DNA damage and related modifier genes in Italian Cystic fibrosis patients

Ejemplares similares