Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, Bologna, Italy.
Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2 Suppl):21-4. doi: 10.1177/03946320110240S205.
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.
12q13 区域已被不同的研究者提出为口腔面裂的候选基因座。在本研究中，我们使用微卫星标记，在一个由 39 个意大利多代家族组成的样本中，对该区域与非综合征型唇裂伴或不伴腭裂（NSCLP）进行连锁分析。在不同的遗传方式下，以及在非参数方法下，都没有发现标记图谱与 NSCLP 之间存在连锁关系。我们还对图谱的每一点进行了连锁排除的正式水平评估。遗传异质性和候选基因座在不同人群中的不同影响可能解释了不同研究中得到的相互矛盾的结果。
