| Autor: |
Vieira, Alexandre R, Castillo Taucher, Silvia, Aravena, Teresa, Astete, Carmen, Sanz, Patricia, Tastets, María Eugenia, Monasterio, Luis, Murray, Jeffrey C |
| Jazyk: |
Spanish; Castilian |
| Rok vydání: |
2004 |
| Předmět: |
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| Zdroj: |
Revista médica de Chile, Volume: 132, Issue: 7, Pages: 816-822, Published: JUL 2004 |
| Popis: |
Background: Mutations of the MSX1 gene may contribute to nonsyndromic forms of cleft lip and/or cleft palate. Aim: To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate. Patients and Methods: We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR. Results: Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population. Conclusions: Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene (Rev Méd Chile 2004; 132: 816-22) |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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