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[Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate]. Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales.

Vieira, Alexandre R and Castillo Taucher, Silvia and Aravena, Teresa and Astete, Carmen and Sanz, Patricia and Tastets, Maía Eugenia and Monasterio, Luis and Murray, Jeffrey C (2004) [Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate]. Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales. Revista médica de Chile, 132 (7). 816 - 822. ISSN 0034-9887

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Abstract

BACKGROUND: Mutations of the MSX1 gene may contribute to non-syndromic 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.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Vieira, Alexandre Ralexandre_vieira@pitt.eduARV11
Castillo Taucher, Silvia
Aravena, Teresa
Astete, Carmen
Sanz, Patricia
Tastets, Maía Eugenia
Monasterio, Luis
Murray, Jeffrey C
Date: July 2004
Date Type: Publication
Journal or Publication Title: Revista médica de Chile
Volume: 132
Number: 7
Page Range: 816 - 822
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0034-9887
Article Type: Research Article
MeSH Headings: Chile; Cleft Lip--genetics; Cleft Palate--genetics; DNA Mutational Analysis; Gene Frequency; Genes, Homeobox--genetics; Homeodomain Proteins--genetics; Humans; MSX1 Transcription Factor; Mutation--genetics; Polymerase Chain Reaction; Polymorphism, Genetic; Transcription Factors--genetics
PubMed ID: 15379328
Date Deposited: 04 Oct 2012 14:18
Last Modified: 30 Oct 2018 14:00
URI: http://d-scholarship.pitt.edu/id/eprint/15580

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