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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Item Type: |
Article
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Status: |
Published |
Creators/Authors: |
Creators | Email | Pitt Username | ORCID  |
---|
Vieira, Alexandre R | arv11@pitt.edu | ARV11 | | Castillo Taucher, Silvia | | | | Aravena, Teresa | | | | Astete, Carmen | | | | Sanz, Patricia | | | | Tastets, Maía Eugenia | | | | Monasterio, Luis | | | | Murray, Jeffrey C | | | |
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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: |
20 Feb 2020 13:55 |
URI: |
http://d-scholarship.pitt.edu/id/eprint/15580 |
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