Article Abstract:
Nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are representative of complex genetic traits. Disease loci of CP/P and CPO can be hypothesized to be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting have been screened for LD with either CL/P or CPO in a population mainly Caucasian. Both case-control- and nuclear-family-based approaches were used. No common mutations were found in the coding regions in a mutation search in certain genes in 69 CPO patients and in a group within the larger group of CL/P patients. Several rare variants of MSX1 and TGFB3 were found. Results are a foundation for further research.
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Article Abstract:
A comprehensive study of the effects of polymorphisms in genes involved in detoxification pathways is reported along with the interaction effects between these genetic variants and maternal cigarette smoking on the common birth defect of orofacial cleft (OC) in infants. Results reveal that maternal smoking is interactive with specific detoxification-gene variants, thus increasing OC risk in infants.
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Article Abstract:
A simple and general method is proposed for testing the association of a disease trait with multiple SNP markers and for nominating a set of risk-haplotype-tagging alleles. The data from orofacial cleft study is used for investigating both fetal and maternal effects of the IRF6 gene.
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