Journal article
Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
Revista medíca de Chile, Vol.132(7), pp.816-822
07/01/2004
DOI: 10.4067/S0034-98872004000700005
PMID: 15379328
Abstract
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
Details
- Title: Subtitle
- Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales
- Creators
- Alexandre R Vieira - Universidad de ChileSilvia Castillo Taucher - Universidad de ChileTeresa Aravena - Universidad de ChileCarmen Astete - Universidad de ChilePatricia Sanz - Universidad de ChileMaría Eugenia Tastets - Universidad de ChileLuis Monasterio - Fundación Atención Integral Malformaciones Craneofaciales Dr. Alfredo Gantz MannJeffrey C Murray - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Revista medíca de Chile, Vol.132(7), pp.816-822
- DOI
- 10.4067/S0034-98872004000700005
- PMID
- 15379328
- NLM abbreviation
- Rev Med Chil
- ISSN
- 0034-9887
- eISSN
- 0717-6163
- Publisher
- Sociedad Médica de Santiago
- Alternative title
- Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate
- Language
- Portuguese
- Date published
- 07/01/2004
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025566802771
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