title: Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population.
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.
authors.affiliation: Laboratory of Genetic Epidemiology, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
authors.forename: J
authors.initials: J
authors.lastname: Suazo
authors.forename: J L
authors.initials: JL
authors.lastname: Santos
authors.forename: H
authors.initials: H
authors.lastname: Carreño
authors.forename: L
authors.initials: L
authors.lastname: Jara
authors.forename: R
authors.initials: R
authors.lastname: Blanco
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002677:Chile; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005819:Genetic Markers; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D051957:MSX1 Transcription Factor; D009010:Monte Carlo Method; D010290:Parents; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; D014157:Transcription Factors