Preston R A, Post J C, Keats B J, Aston C E, Ferrell R E, Priest J, Nouri N, Losken H W, Morris C A, Hurtt M R
Department of Pathology, University of Pittsburgh, Pennsylvania 15261.
Nat Genet. 1994 Jun;7(2):149-53. doi: 10.1038/ng0694-149.
Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region on chromosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pairwise lod score of 5.32 (theta = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene.
克鲁宗颅面骨发育不全（CFD）是一种常染色体显性颅面疾病，其特征为颅缝早闭、眶浅和上颌骨发育不全。为了定位致病基因，我们采用了一种与已知发育基因进行连锁测试的定位策略。对一个大家系的分析确定了CFD与位于10号染色体长臂上一个跨度为13厘摩区域的三个基因座（D10S190、D10S209和D10S216）之间存在连锁关系。在D10S190处获得了最大成对lod分数4.42（θ = 0），加入第二个家系后，在同一基因座处产生了组合成对lod分数5.32（θ = 0）。位于该区域内的发育基因PAX2是一个有吸引力的候选基因。
