Girardi Ambra, Martinelli Marcella, Carinci Francesco, Morselli Paolo G, Caramelli Elisabetta, Scapoli Luca
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, Bologna, Italy.
Eur J Oral Sci. 2011 Feb;119(1):102-5. doi: 10.1111/j.1600-0722.2010.00801.x.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a malformation with variable phenotypes, resulting from a mixture of genetic and environmental factors. Some studies have supported a role for the 16q24 region and its candidate gene, CRISPLD2, in clefting. A replication study is necessary to confirm these findings. The aim of the present study was to test, by genetic linkage and association analyses, whether the candidate gene, CRISPLD2, represents a risk factor for NSCLP. The analysis of 39 multigenerational families provided formal exclusion of a linkage between NSCLP and the CRISPLD2 locus under different genetic models and non-parametric analyses. The family-based study of 239 unrelated probands and their parents revealed no association between any particular allele or haplotype and NSCLP. Therefore, the present investigation did not support the hypothesis of the involvement of CRISPLD2 in NSCLP malformation, at least with regard to the Italian population.
非综合征性唇裂伴或不伴腭裂（NSCLP）是一种具有多种表型的畸形，由遗传和环境因素共同作用导致。一些研究支持16q24区域及其候选基因CRISPLD2在腭裂形成中发挥作用。有必要进行一项重复研究来证实这些发现。本研究的目的是通过遗传连锁和关联分析，检验候选基因CRISPLD2是否为NSCLP的一个风险因素。对39个多代家庭的分析在不同遗传模型和非参数分析下正式排除了NSCLP与CRISPLD2基因座之间的连锁关系。对239名无亲缘关系的先证者及其父母进行的基于家系的研究显示，任何特定等位基因或单倍型与NSCLP之间均无关联。因此，本研究不支持CRISPLD2参与NSCLP畸形形成的假说，至少对于意大利人群而言是如此。
