Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , , , , , , |
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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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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
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info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/23408 |
dc.identifier.issn.pt_BR.fl_str_mv |
1415-4757 |
dc.identifier.nrb.pt_BR.fl_str_mv |
000667260 |
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1415-4757 000667260 |
url |
http://hdl.handle.net/10183/23408 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
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