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| REPETTO,GABRIELA M; PUGA,ALONSO R; DELGADO,IRIS. |
| Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their... |
| Tipo: Journal article |
Palavras-chave: CFTR gene; Cystic fibrosis; F508; Haplotype analys. |
| Ano: 2007 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013 |
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| Perone,C.; Medeiros,G.S.; del Castillo,D.M.; de Aguiar,M.J.B.; Januário,J.N.. |
| The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CFTR gene; Cystic fibrosis; Mutations; Neonatal screening; F508del. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000200003 |
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