PMID: 15381719Sep 24, 2004Paper

Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population

Journal of Dental Research
José SuazoRafael Blanco

Abstract

Non-syndromic cleft lip/palate (NSCLP) is a complex genetic trait. Linkage and association studies have suggested that a clefting locus could be located on chromosome 4p. Sixty Chilean families were recruited for this study; from these, we used unrelated trios to evaluate the possible linkage disequilibrium between MSX1 and NSCLP. An intragenic marker, MSX1-CA, and an extragenic marker, D4S432 at a distance of 0.8 cM from MSX1, were analyzed by means of polymerase chain-reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. We carried out a transmission/disequilibrium test (TDT) for multiple alleles to evaluate the presence of linkage disequilibrium. Results showed a preferential transmission of the 169-bp allele of MSX1 (p = 0.03). Although there was no preferential transmission for the D4S432 marker, the overall extended TDT (ETDT) showed a significant result (p = 0.01). The authors' findings support the hypothesis of the contribution of MSX1 in the etiology of NSCLP in the Chilean population.

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Citations

Nov 12, 2005·Current Opinion in Pediatrics·Andrew C Lidral, Lina M Moreno
Nov 4, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alexandre R VieiraMary L Marazita
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