Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations
| Autor: | Marie-Claude Pasquet, Ayman El-Seedy, Véronique Ladeveze, Alain Kitzis, M.-P. Audrézet, Thiery Bienvenu, Eric Bieth |
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| Rok vydání: | 2012 |
| Předmět: |
Pulmonary and Respiratory Medicine
Adult Male Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Biology CFTR pseudomutations Cystic fibrosis Nucleotide sequence analysis Exon Gene Duplication Genetic variation Gene duplication medicine Humans Pediatrics Perinatology and Child Health CFTR exon 10 Sequence (medicine) Genetics Human genome Intron Genetic Variation medicine.disease Molecular biology Pediatrics Perinatology and Child Health Mutation testing Female |
| Zdroj: | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 12(4) |
| ISSN: | 1873-5010 |
| Popis: | CFTR exon 10 and its flanking regions are duplicated in the human genome. These duplications present mutations compared to the normal exon 10 sequence. Due to the polymorphic sequence of the 3′ intron 9 sequence, it may appear difficult to sequence exon 10 and some mutations described in this exon could, in fact, be variations observed in an ectopic duplicated sequence.In our previous work we described a methodology to carry out PCR only of exon 10 and not of ectopic regions. In this work, we analyzed mutations described in the CF data base as being CFTR mutations but also found in ectopic regions: c.1392G>T, c.1338_1339delAT, c.1235delC, and c.1247A>G. We have shown that these mutations appear to be authentic mutations in CFTR exon 10 and not ectopic variations in analyzed patients. These mutations validate the usefulness of our new strategy in the mutation analysis of this region of CFTR. |
| Databáze: | OpenAIRE |
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