Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Baciliero U, Padula E, Tognon M
Department of Morphology and Embryology, School of Medicine, University of Ferrara, Italy.
Genomics. 1998 Jul 15;51(2):177-81. doi: 10.1006/geno.1998.5384.
Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a proto-oncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both nonparametric and parametric methods. The affected pedigree member statistics and the transmission disequilibrium test supported a role for BCL3 in causing OFC, while no evidence of linkage or genetic heterogeneity was found with the lod score method.
非综合征性唇裂伴或不伴腭裂（OFC）是一种常见的具有遗传基础的出生缺陷。遗传贡献的本质仍有待阐明；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。我们使用非参数和参数方法，在一个由40个多重家系组成的样本中，研究了位于19q13.2的原癌基因BCL3与OFC之间的连锁关系。受影响家系成员统计和传递不平衡检验支持BCL3在导致OFC中起作用，而用对数优势计分法未发现连锁或遗传异质性的证据。
