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Extra info for Cleft Palate - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References
This proposal addresses the following questions: (1) what specific cellular and molecular processes during palate development depend on Jag2 function? (2) which Notch receptor(s) mediates Jag2 function in palate development? (3) what molecules act in the Jag2-Notch signaling pathway to regulate palate development? A combination of molecular, genetic, and embryological approaches will be used to find answers to these questions. These studies will provide insights into molecular and cellular mechanisms governing palate development and will greatly extend current understanding of the mammalian Notch signaling pathway.
Admixture tests for linkage heterogeneity and conditional approaches for identifying linkage from multiple markers will be employed. 2) To fine map chromosomal region suggesting linkage using these same individuals to identify variant alleles that could be responsible for oral clefting. Results of this study should yield a better understanding of the gene or genes contributing to risk of oral clefts and may suggest strategies for either preventing these birth defects or for identifying individuals at highest risk.
The scope of this project will be to evaluate candidate genes for CPO using both linkage and linkage disequilibrium analyses. The population of Shanghai, China is relatively homogeneous, which a unique quality that increases the power to map a disease loci and also facilitate the transition to physical mapping and gene identification. The strength of this study is the relatively large numbers of affected relative pairs that can be ascertained at multiple sites, thus increasing the overall power for the study to detect loci of even modest effect.