Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients
Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment were enrolled for genetic and clinical evaluation. Genetic analysis was performed on blood samples stored on neonatal screening cards using PCR techniques to determine the presence of <FONT FACE="Symbol">...
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| Format: | Article |
| Language: | English |
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Associação Brasileira de Divulgação Científica
1998-01-01
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| Series: | Brazilian Journal of Medical and Biological Research |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400009 |
| _version_ | 1818977943268884480 |
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| author | Maróstica P.J.C. Raskin S. Abreu-e-Silva F.A. |
| author_facet | Maróstica P.J.C. Raskin S. Abreu-e-Silva F.A. |
| author_sort | Maróstica P.J.C. |
| collection | DOAJ |
| description | Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment were enrolled for genetic and clinical evaluation. Genetic analysis was performed on blood samples stored on neonatal screening cards using PCR techniques to determine the presence of <FONT FACE="Symbol">D</font>F508 mutations. Clinical evaluation included Shwachman and Chrispin-Norman scores, age at onset of symptoms and diagnosis, spirometry, awake and sleep pulse oximetry, hyponychial angle measurement and presence of chronic Pseudomonas aeruginosa colonization. Eighteen patients (29.5%) were homozygous for the <FONT FACE="Symbol">D</font>F508 mutation, 26 (42.6%) had one <FONT FACE="Symbol">D</font>F508 mutation and 17 (27.9%) were noncarriers, corresponding to a 50.8% prevalence of the mutation in the whole population. Analysis by the Kruskal-Wallis test for comparison of genetic status with continuous variables or by the chi-square test and logistic regression for dichotomous variables showed no significant differences between any two groups for <FONT FACE="Symbol">a</font> = 0.05. We conclude that genetic status in relation to the <FONT FACE="Symbol">D</font>F508 mutation is not associated with pulmonary status as evaluated by the above variables |
| first_indexed | 2024-12-20T16:35:46Z |
| format | Article |
| id | doaj.art-31300cf337764528bde19f31f358b25f |
| institution | Directory Open Access Journal |
| issn | 0100-879X 0034-7310 |
| language | English |
| last_indexed | 2024-12-20T16:35:46Z |
| publishDate | 1998-01-01 |
| publisher | Associação Brasileira de Divulgação Científica |
| record_format | Article |
| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-31300cf337764528bde19f31f358b25f2022-12-21T19:33:10ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research0100-879X0034-73101998-01-01314529532Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patientsMaróstica P.J.C.Raskin S.Abreu-e-Silva F.A.Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment were enrolled for genetic and clinical evaluation. Genetic analysis was performed on blood samples stored on neonatal screening cards using PCR techniques to determine the presence of <FONT FACE="Symbol">D</font>F508 mutations. Clinical evaluation included Shwachman and Chrispin-Norman scores, age at onset of symptoms and diagnosis, spirometry, awake and sleep pulse oximetry, hyponychial angle measurement and presence of chronic Pseudomonas aeruginosa colonization. Eighteen patients (29.5%) were homozygous for the <FONT FACE="Symbol">D</font>F508 mutation, 26 (42.6%) had one <FONT FACE="Symbol">D</font>F508 mutation and 17 (27.9%) were noncarriers, corresponding to a 50.8% prevalence of the mutation in the whole population. Analysis by the Kruskal-Wallis test for comparison of genetic status with continuous variables or by the chi-square test and logistic regression for dichotomous variables showed no significant differences between any two groups for <FONT FACE="Symbol">a</font> = 0.05. We conclude that genetic status in relation to the <FONT FACE="Symbol">D</font>F508 mutation is not associated with pulmonary status as evaluated by the above variableshttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400009cystic fibrosis<FONT FACE=Symbol>D</font>F508 gene mutationgenotypephenotype |
| spellingShingle | Maróstica P.J.C. Raskin S. Abreu-e-Silva F.A. Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients Brazilian Journal of Medical and Biological Research cystic fibrosis <FONT FACE=Symbol>D</font>F508 gene mutation genotype phenotype |
| title | Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients |
| title_full | Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients |
| title_fullStr | Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients |
| title_full_unstemmed | Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients |
| title_short | Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients |
| title_sort | analysis of the df508 mutation in a brazilian cystic fibrosis population comparison of pulmonary status of homozygotes with other patients |
| topic | cystic fibrosis <FONT FACE=Symbol>D</font>F508 gene mutation genotype phenotype |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400009 |
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