Juriloff D M, Mah D G
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Mamm Genome. 1995 Feb;6(2):63-9. doi: 10.1007/BF00303246.
Cleft lip with or without cleft palate, CL(P), a common human birth defect, has a genetically complex etiology. An animal model with a similarly complex genetic basis is established in the A/WySn mouse strain, in which 20% of newborns have CL(P). Using a newly created congenic strain, AEJ.A, and SSLP markers, we have mapped a major CL(P)-causing gene derived from the A/WySn strain. This locus, here named clf1 (cleft lip) maps to Chromosome (Chr) 11 to a region having linkage homology with human 17q21-24, supporting reports of association of human CL(P) with the retinoic acid receptor alpha (RARA) locus.
唇裂伴或不伴腭裂（CL(P)）是一种常见的人类出生缺陷，其病因具有遗传复杂性。在A/WySn小鼠品系中建立了具有类似复杂遗传基础的动物模型，其中20%的新生小鼠患有CL(P)。利用新创建的近交系AEJ.A和简单序列长度多态性（SSLP）标记，我们定位了一个源自A/WySn品系的导致CL(P)的主要基因。这个位点，在这里命名为clf1（唇裂），定位于11号染色体上与人类17q21 - 24具有连锁同源性的区域，支持了人类CL(P)与视黄酸受体α（RARA）位点相关联的报道。
