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Journal of Dental Research
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Clinical

Linkage Disequilibrium between MSX1 and Non-syndromic Cleft Lip/Palate in the Chilean Population

J. Suazo1, J.L. Santos2, H. Carreño1, L. Jara1 and R. Blanco1,*

1 Human Genetics Program, Institute of Biomedical Sciences, School of Medicine, University of Chile, Av. Independencia 1027, PO Box 70061, Santiago, Chile; and 2 Laboratory of Genetic Epidemiology, Institute of Nutrition and Food Technology (INTA), University of Chile;

Correspondence: * corresponding author, rblanco{at}med.uchile.cl

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.

Key Words: STR • non-syndromic cleft lip/palate • association • linkage disequilibrium

Journal of Dental Research, Vol. 83, No. 10, 782-785 (2004)
DOI: 10.1177/154405910408301009
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