家族性克利珀尔-费尔综合征中的模式化表达。
Patterned expression in familial Klippel-Feil syndrome.
作者信息
Clarke R A, Kearsley J H, Walsh D A
机构信息
Division of Cancer Services, St George Hospital, Sydney, Australia.
出版信息
Teratology. 1996 Mar;53(3):152-7. doi: 10.1002/(SICI)1096-9926(199603)53:3<152::AID-TERA2>3.0.CO;2-6.
Klippel-Feil syndrome (KFS) is characterised by congenital fusion of vertebrae within the rostral spine. The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95). Here, we describe the unique pattern of variable phenotypic expression within the KF2-01 family. The pattern of anomalies revealed a cumulative, rostrocaudal graded sequence of skipped vertebral fusions. This fusion pattern presents striking similarities with the mutant phenotype and gene expression profile of the Drosophila segment polarity gene engrailed.
克-费综合征（KFS）的特征是脊柱前部椎体先天性融合。在8号染色体上鉴定出的首个KFS基因（SGM1）位点与KF2-01家族中的椎体融合及相关嗓音障碍相关联（克拉克等人，1994年、1995年）。在此，我们描述了KF2-01家族中独特的可变表型表达模式。异常模式显示出一种累积性的、从头部到尾部逐渐分级的椎体融合缺失序列。这种融合模式与果蝇节段极性基因engrailed的突变体表型和基因表达谱具有惊人的相似性。
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