Abstract
Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with features of a complex genetic trait. Several studies have reported positive association and linkage between NSCLP and microsatellite markers in the 4q28-4q33 region particularly with the D4S192 (4q31) marker. We hypothesized that the candidate genes SMAD1 and HHIP (4q31) could be involved in the etiology of NSCLP based on previous positive linkage results and their important role in maxillofacial development. We evaluated the possible association between microsatellite markers located at less than 1 cM from these genes and NSCLP using a sample of 58 Chilean case-parent trios. Microsatellite markers were analyzed using the polymerase chain reaction (PCR) with fluorescent labeled primers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. The extended transmission disequilibrium test (ETDT) was used to analyze allelic transmissions from the parents to their affected progeny. No significant association due to linkage disequilibrium was detected between both markers and NSCLP.
Highlights
Nonsyndromic cleft lip/palate (NSCLP), is a common birth defect with features of a genetically complex trait
In a previous study in the Chilean population (Paredes et al, 1999), we reported a positive association between D4S192 and NSCLP
The SMAD1 gene is a homolog of the drosophila gene denominated mothers against decapentaplegic 1 (MAD1) and encodes a protein which participates in a signaling cascade triggered by transforming growth factor betas (TGFβs) and bone morphogenetic proteins (BMPs) (Cohen, 2003)
Summary
Nonsyndromic cleft lip/palate (NSCLP), is a common birth defect with features of a genetically complex trait. Several candidate genes and loci mapping in various chromosome regions have been claimed to be involved in cleft determination by parametric and non-parametric linkage and association analysis (Carinci et al 2000; Murray, 2002). Some studies have reported positive and negative findings between NSCLP and the 4q28-4q33 region.
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