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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