Pezzetti Furio, Palmieri Annalisa, Martinelli Marcella, Scapoli Luca, Arlotti Marzia, Baciliero Ugo, Padula Ernesto, Carinci Paolo, Caramelli Elisabetta, Carinci Francesco
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
Eur J Hum Genet. 2007 Sep;15(9):992-4. doi: 10.1038/sj.ejhg.5201868. Epub 2007 May 30.
Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700-1/1,000 infants born alive. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. Recently, a couple of genes, PVR and PVRL2, mapping in the candidate region OFC3 on chromosome 19q13.31, have been investigated because of their homology to PVRL1, a gene previously shown to cause the Margarita Island CL/P-ectodermal dysplasia syndrome. In the present work, we investigated PVR and PVRL2 genes by family-based linkage disequilibrium analysis using a sample collected from the Italian population. In contrast to previous analyses on other populations, we could not find any statistically significant association between the markers alleles and non-syndromic clefting.
唇裂伴或不伴腭裂（CL/P）是最常见的出生缺陷之一，在每700 - 1000例活产婴儿中就有1例发生。遗传因素的本质仍有待阐明；然而，已经针对这种畸形提出了一些染色体区域和候选基因。最近，由于位于19q13.31染色体上候选区域OFC3中的两个基因PVR和PVRL2与PVRL1具有同源性，而PVRL1是先前已被证明可导致玛格丽塔岛CL/P - 外胚层发育不良综合征的基因，因此对这两个基因进行了研究。在本研究中，我们使用从意大利人群中收集的样本，通过基于家系的连锁不平衡分析对PVR和PVRL2基因进行了研究。与之前对其他人群的分析不同，我们未发现标记等位基因与非综合征性唇腭裂之间存在任何具有统计学意义的关联。
