Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

Detalhes bibliográficos
Autor(a) principal: Baldo, Guilherme
Data de Publicação: 2008
Outros Autores: Ayala, Ana, Melendez, Matias Eliseo, Nonnemacher, Karina, Lima, Luciane Cauduro, Leistner-Segal, Sandra, Kieling, Carlos Oscar, Vieira, Sandra Maria Gonçalves, Ferreira, Cristina Helena Targa, Silveira, Themis Reverbel da, Giugliani, Roberto, Matte, Ursula da Silveira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/23408
Resumo: 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
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spelling Baldo, GuilhermeAyala, AnaMelendez, Matias EliseoNonnemacher, KarinaLima, Luciane CauduroLeistner-Segal, SandraKieling, Carlos OscarVieira, Sandra Maria GonçalvesFerreira, Cristina Helena TargaSilveira, Themis Reverbel daGiugliani, RobertoMatte, Ursula da Silveira2010-06-05T04:17:29Z20081415-4757http://hdl.handle.net/10183/23408000667260Serpin 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 childrenapplication/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 31, n. 2 (Jun. 2008), p. 423-426Glycine maxPlantas transgênicasAlpha-1-antitrypsin deficiencyLiver diseasePediatric patientsSERPINA1Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver diseaseinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000667260.pdf000667260.pdfTexto completo (inglês)application/pdf77956http://www.lume.ufrgs.br/bitstream/10183/23408/1/000667260.pdfc51feac732444cc88069b8a76aa1a82cMD51TEXT000667260.pdf.txt000667260.pdf.txtExtracted Texttext/plain23565http://www.lume.ufrgs.br/bitstream/10183/23408/2/000667260.pdf.txtc5bc51a046df19377a0c96fbd2f715e7MD52THUMBNAIL000667260.pdf.jpg000667260.pdf.jpgGenerated Thumbnailimage/jpeg1818http://www.lume.ufrgs.br/bitstream/10183/23408/3/000667260.pdf.jpgc878fd573b0255f4106e9483ad915520MD5310183/234082023-09-16 03:41:13.216462oai:www.lume.ufrgs.br:10183/23408Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-09-16T06:41:13Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
title Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
spellingShingle Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
Baldo, Guilherme
Glycine max
Plantas transgênicas
Alpha-1-antitrypsin deficiency
Liver disease
Pediatric patients
SERPINA1
title_short Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
title_full Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
title_fullStr Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
title_full_unstemmed Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
title_sort Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
author Baldo, Guilherme
author_facet Baldo, Guilherme
Ayala, Ana
Melendez, Matias Eliseo
Nonnemacher, Karina
Lima, Luciane Cauduro
Leistner-Segal, Sandra
Kieling, Carlos Oscar
Vieira, Sandra Maria Gonçalves
Ferreira, Cristina Helena Targa
Silveira, Themis Reverbel da
Giugliani, Roberto
Matte, Ursula da Silveira
author_role author
author2 Ayala, Ana
Melendez, Matias Eliseo
Nonnemacher, Karina
Lima, Luciane Cauduro
Leistner-Segal, Sandra
Kieling, Carlos Oscar
Vieira, Sandra Maria Gonçalves
Ferreira, Cristina Helena Targa
Silveira, Themis Reverbel da
Giugliani, Roberto
Matte, Ursula da Silveira
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Baldo, Guilherme
Ayala, Ana
Melendez, Matias Eliseo
Nonnemacher, Karina
Lima, Luciane Cauduro
Leistner-Segal, Sandra
Kieling, Carlos Oscar
Vieira, Sandra Maria Gonçalves
Ferreira, Cristina Helena Targa
Silveira, Themis Reverbel da
Giugliani, Roberto
Matte, Ursula da Silveira
dc.subject.por.fl_str_mv Glycine max
Plantas transgênicas
topic Glycine max
Plantas transgênicas
Alpha-1-antitrypsin deficiency
Liver disease
Pediatric patients
SERPINA1
dc.subject.eng.fl_str_mv Alpha-1-antitrypsin deficiency
Liver disease
Pediatric patients
SERPINA1
description 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
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2010-06-05T04:17:29Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/23408
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Genetics and molecular biology. Ribeirão Preto. Vol. 31, n. 2 (Jun. 2008), p. 423-426
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