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X-连锁脊椎骨骺发育不良（SEDL）是由基因突变引起的骨软骨发育不良,在儿童中后期发病,主要表现为短躯干性侏儒和继发性大关节炎,X线特征为椎体普遍变扁,椎体中后部呈典型驼峰状改变。SEDL基因被定位于Xp22,编码一个由140个氨基酸组成的蛋白质,该蛋白质可能参与内质网到高尔基体之间的物质运输。人类基因组有7个SEDL假基因,其中一个的阅读框架几乎与SEDL基因完全相同。SEDL基因突变包括缺失、插入、转换和颠换以及剪接突变,显示出高度的遗传异质性。SEDL基因的克隆为基因诊断和治疗打下了基础。
X-linked spine epiphyseal dysplasia (SEDL) is caused by genetic mutations in osteochondral dysplasia, in the late onset of children, mainly for the short trunk dry dwarf and secondary large arthritis, X-ray features of the vertebral general change Flat, vertebral in the rear was a typical hump-like changes. The SEDL gene is located at Xp22 and encodes a 140 amino acid protein that may be involved in the transport of material between the endoplasmic reticulum and the Golgi apparatus. The human genome has seven SEDL pseudogenes, one of which reads almost exactly the same as the SEDL gene. SEDL mutations include deletions, insertions, conversions and transversions, and splicing mutations that show a high degree of genetic heterogeneity. The cloning of SEDL gene laid the foundation for gene diagnosis and treatment.