Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
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 chai...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2008-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005 |
| _version_ | 1828191151101837312 |
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| author | Guilherme Baldo Ana Ayala Matias Melendez Karina Nonnemacher Luciane Lima Sandra Leistner Segal Carlos Kieling Sandra Gonçalves Vieira Cristina Targa Ferreira Themis Reverbel da Silveira Roberto Giugliani Ursula Matte |
| author_facet | Guilherme Baldo Ana Ayala Matias Melendez Karina Nonnemacher Luciane Lima Sandra Leistner Segal Carlos Kieling Sandra Gonçalves Vieira Cristina Targa Ferreira Themis Reverbel da Silveira Roberto Giugliani Ursula Matte |
| author_sort | Guilherme Baldo |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T08:33:55Z |
| format | Article |
| id | doaj.art-5de017847b9b460c9ada81c31bc88c18 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-04-12T08:33:55Z |
| publishDate | 2008-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-5de017847b9b460c9ada81c31bc88c182022-12-22T03:40:04ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852008-01-0131242342610.1590/S1415-47572008000300005Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver diseaseGuilherme BaldoAna AyalaMatias MelendezKarina NonnemacherLuciane LimaSandra Leistner SegalCarlos KielingSandra Gonçalves VieiraCristina Targa FerreiraThemis Reverbel da SilveiraRoberto GiuglianiUrsula MatteSerpin 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005alpha-1-antitrypsin deficiencyliver diseasepediatric patientsSERPINA1 |
| spellingShingle | Guilherme Baldo Ana Ayala Matias Melendez Karina Nonnemacher Luciane Lima Sandra Leistner Segal Carlos Kieling Sandra Gonçalves Vieira Cristina Targa Ferreira Themis Reverbel da Silveira Roberto Giugliani Ursula Matte Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease Genetics and Molecular Biology alpha-1-antitrypsin deficiency liver disease pediatric patients SERPINA1 |
| title | 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_short | 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 |
| topic | alpha-1-antitrypsin deficiency liver disease pediatric patients SERPINA1 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005 |
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