| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
|
| 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
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
