Abstract
Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus an additional 16 families using 31 markers on chromosome 2. This analysis showed intriguing evidence of linkage to 2q (Zlr=2.26, empirical P-value=0.028 in a chromosome-wide analysis). Transmission disequilibrium tests also revealed evidence of linkage and disequilibrium for two markers in this region (D2S168 and D2S1400 with P-values=0.022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted.
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Acknowledgements
Genotyping services for the genome scan were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to the Johns Hopkins University, Contract Number N01-HG-65403. Dr Wyszynski was funded by a contract from the Massachusetts Center for Birth Defects Research and Prevention of the Massachusetts Department of Public Health and by a research award from the Cleft Palate Foundation. We thank Adele Mitchell for her work on data from the genome-wide scan. This work was supported by Grant P60-DE-13078.
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Zeiger, J., Hetmanski, J., Beaty, T. et al. Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2. Eur J Hum Genet 11, 835–839 (2003). https://doi.org/10.1038/sj.ejhg.5201052
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DOI: https://doi.org/10.1038/sj.ejhg.5201052
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