Related Experiment Video
Updated: Aug 22, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Linkage disequilibrium between MSX1 and non-syndromic cleft lip/palate in the Chilean population
J Suazo1, J L Santos, H Carreño
1Laboratory of Genetic Epidemiology, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
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.
Related Concept Videos
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
X-linked Traits
Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Dihybrid Crosses
Sex-linked Disorders

