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

dc.creatorBaldo, Guilherme
dc.creatorAyala, Ana
dc.creatorMelendez, Matias Eliseo
dc.creatorNonnemacher, Karina
dc.creatorLima, Luciane Cauduro
dc.creatorLeistner-Segal, Sandra
dc.creatorKieling, Carlos Oscar
dc.creatorVieira, Sandra Maria Gonçalves
dc.creatorFerreira, Cristina Helena Targa
dc.creatorSilveira, Themis Reverbel da
dc.creatorGiugliani, Roberto
dc.creatorMatte, Ursula da Silveira
dc.date2010-06-05T04:17:29Z
dc.date2008
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/10183/23408
dc.identifier000667260
dc.descriptionSerpin 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
dc.formatapplication/pdf
dc.languageeng
dc.relationGenetics and molecular biology. Ribeirão Preto. Vol. 31, n. 2 (Jun. 2008), p. 423-426
dc.rightsOpen Access
dc.subjectAlpha-1-antitrypsin deficiency
dc.subjectLiver disease
dc.subjectPediatric patients
dc.subjectSERPINA1
dc.subjectGlycine max
dc.subjectPlantas transgênicas
dc.subjectSoja : Controle biologico : Lagarta
dc.titlePrevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
dc.typeArtigo de periódico
dc.typeNacional


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