Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
dc.contributor.author | Baldo, Guilherme | pt_BR |
dc.contributor.author | Ayala, Ana | pt_BR |
dc.contributor.author | Melendez, Matias Eliseo | pt_BR |
dc.contributor.author | Nonnemacher, Karina | pt_BR |
dc.contributor.author | Lima, Luciane Cauduro | pt_BR |
dc.contributor.author | Leistner-Segal, Sandra | pt_BR |
dc.contributor.author | Kieling, Carlos Oscar | pt_BR |
dc.contributor.author | Vieira, Sandra Maria Gonçalves | pt_BR |
dc.contributor.author | Ferreira, Cristina Helena Targa | pt_BR |
dc.contributor.author | Silveira, Themis Reverbel da | pt_BR |
dc.contributor.author | Giugliani, Roberto | pt_BR |
dc.contributor.author | Matte, Ursula da Silveira | pt_BR |
dc.date.accessioned | 2010-06-05T04:17:29Z | pt_BR |
dc.date.issued | 2008 | pt_BR |
dc.identifier.issn | 1415-4757 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/23408 | pt_BR |
dc.description.abstract | Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele, even when heterozygous, is a frequent cause of liver disease in our group of Brazilian children but that the PI*S allele does not confer an increased risk of hepatic disorders in our group of Brazilian children | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | Genetics and molecular biology. Ribeirão Preto. Vol. 31, n. 2 (Jun. 2008), p. 423-426 | pt_BR |
dc.rights | Open Access | en |
dc.subject | Alpha-1-antitrypsin deficiency | en |
dc.subject | Glycine max | pt_BR |
dc.subject | Plantas transgênicas | pt_BR |
dc.subject | Liver disease | en |
dc.subject | Pediatric patients | en |
dc.subject | SERPINA1 | en |
dc.title | Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 000667260 | pt_BR |
dc.type.origin | Nacional | pt_BR |
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