Data/hora: 10/06/2024 06:31:49

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease	
Autores: 	Baldo,Guilherme; Ayala,Ana; Melendez,Matias; Nonnemacher,Karina; Lima,Luciane; Segal,Sandra Leistner; Kieling,Carlos; Vieira,Sandra Gonçalves; Ferreira,Cristina Targa; Silveira,Themis Reverbel da; Giugliani,Roberto; Matte,Ursula.	
Data: 	2008-01-01	
Ano: 	2008	
Palavras-chave: 	Alpha-1-antitrypsin deficiency; Liver disease; Pediatric patients; SERPINA1.	
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.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572008000300005	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.31 n.2 2008	
Fonte: 	info:eu-repo/semantics/openAccess