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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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| CALDERÓN,JUAN FRANCISCO; PUGA,ALONSO R; GUZMÁN,M. LUISA; ASTETE,CARMEN PAZ; ARRIAZA,MARTA; ARACENA,MARIANA; ARAVENA,TERESA; SANZ,PATRICIA; REPETTO,GABRIELA M. |
| Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in... |
| Tipo: Journal article |
Palavras-chave: Congenital heart disease; DiGeorge syndrome; Genetic modifiers; VEGFA; Velocardiofacial syndrome. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007 |
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