The 12q13 region has been suggested as a candidate locus for orofacial cleft by different investigators. In the present study we tested the region for linkage with non syndromic cleft lip with or without cleft palate in a collection of 39 Italian multigenerational families, using microsatellite markers. No evidence of linkage was detected between the marker map and NSCLP under different mode of inheritance nor with a nonparametric method. Formal level of linkage exclusion, were obtained for each point of the map. Genetic heterogeneity and the different impact of the candidate locus among populations could explain conflicting results obtained in different studies.
Study of the 12q13 region in nonsyndromic cleft lip with or without cleft palate / Martinelli M;Carinci F;Morselli PG;Palmieri A;Girardi A;Clauser L;Spinelli G;Scapoli L. - In: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. - ISSN 0394-6320. - STAMPA. - 24:(2011), pp. 21-24.
Study of the 12q13 region in nonsyndromic cleft lip with or without cleft palate.
MARTINELLI, MARCELLA;MORSELLI, PAOLO;PALMIERI, ANNALISA;GIRARDI, AMBRA;SCAPOLI, LUCA
2011
Abstract
The 12q13 region has been suggested as a candidate locus for orofacial cleft by different investigators. In the present study we tested the region for linkage with non syndromic cleft lip with or without cleft palate in a collection of 39 Italian multigenerational families, using microsatellite markers. No evidence of linkage was detected between the marker map and NSCLP under different mode of inheritance nor with a nonparametric method. Formal level of linkage exclusion, were obtained for each point of the map. Genetic heterogeneity and the different impact of the candidate locus among populations could explain conflicting results obtained in different studies.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
