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| Denden,Sabri; Leban,Nadia; Hayek,Donia; Knani,Jalel; Chibani,Jemni Ben; Khelil,Amel Haj. |
| Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysema and, to a lesser extent, chronic liver disease and cirrhosis. In this report, we provide additional sequence data for alpha1-antitrypsin based on the characterization of a novel variant detected in a 53-year-old heterozygous patient with chronic obstructive pulmonary disease. The mutation occurred on a PI*M2 base allele and was characterized by a T → C transition at nt 97 in exon II that led to the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha1-antitrypsin; Computational analysis; Damaging mutation. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400006 |
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| Denden,Sabri; Khelil,Amel Haj; Knani,Jalel; Lakhdar,Ramzi; Perrin,Pascale; Lefranc,Gérard; Chibani,Jemni Ben. |
| Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-1 antitrypsin; SERPINA1 polymorphisms; COPD; Emphysema; Lung function. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006 |
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