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Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis …
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families …
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
Sandra Daack-Hirsch
Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which …