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Title: Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2
Authors: Zeiger, Joanna S 
Hetmanski, Jacqueline B 
Beaty, Terri H 
VanderKolk, Craig A 
Wyszynski, Diego F. 
Bailey-Wilson, Joan E 
de Luna, Rosa Ortiz 
Perandones, Claudia 
Tolarova, Marie M 
Mosby, Terezie 
Bennun, Ricardo D. 
Segovia, Mabel 
Calda, Pavel 
Pugh, Elizabeth W 
Doheny, Kim 
McIntosh, Iain 
Keywords: Mapeo Cromosómico;Fisura del Paladar;Labio Leporino;Ligamiento Genético;Marcadores Genéticos;Predisposición Genética a la Enfermedad;Pruebas Genéticas
Issue Date: Nov-2003
Journal: European journal of human genetics : EJHG 
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.
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201052
Appears in Collections:Publicaciones CeNaGeM

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