SciELO - Scientific Electronic Library Online

 
vol.31 número3Use of V H, D and J H immunoglobulin gene segments in Brazilian patients with chronic lymphocytic leukaemia (CLL)Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil) índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Genetics and Molecular Biology

versão impressa ISSN 1415-4757

Resumo

SOZEN, Mehmet A.; HECHT, Jacqueline T.  e  SPRITZ, Richard A.. Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate. Genet. Mol. Biol. [online]. 2008, vol.31, n.3, pp. 649-650. ISSN 1415-4757.  http://dx.doi.org/10.1590/S1415-47572008000400008.

Cleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population.

Palavras-chave : orofacial clefts; nectins; PVRL3; mutation analysis.

        · texto em Inglês     · pdf em Inglês