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

Suazo, J; Santos, JL; Carreno, H; Jara, L; Blanco, R

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 MSXl in the etiology of NSCLP in the Chilean population.

Más información

Título según WOS: Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population
Título según SCOPUS: Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population
Título de la Revista: JOURNAL OF DENTAL RESEARCH
Volumen: 83
Número: 10
Editorial: SAGE PUBLICATIONS INC
Fecha de publicación: 2004
Página de inicio: 782
Página final: 785
Idioma: English
Notas: ISI, SCOPUS