SEDL基因突变与X连锁迟发性脊柱骨骺发育不良研究进展  

Progress on SEDL gene mutation and X-linked spondyloepiphyseal dysplasia tarda

作　　者：夏欣一[1] 周鑫[1] 崔英霞[1] 

机构地区：[1]南京军区南京总医院解放军检验医学研究所中心实验科,南京210002

出　　处：《中国优生与遗传杂志》2010年第4期8-10,共3页Chinese Journal of Birth Health & Heredity

基　　金：江苏省科技厅生殖健康研究技术服务平台项目(BM2008151)

摘　　要：SEDL基因于定位于X短臂(Xp22.2),含有6个外显子,第3～6外显子为编码外显子,翻译起始密码位于外显子3,翻译产物为含有140个氨基酸的Sedlin。SEDL基因是一个高度保守的基因,参与在内质网至高尔基体间囊泡运输的定位和融合,与蛋白质转运有关。X-连锁迟发性脊柱骨骺发育不良(SEDT)是累及脊椎椎体和身体承重大关节的骨软骨发育障碍性疾病,呈X-连锁隐性遗传。临床特点为短躯干性侏儒和进行性的大关节退行性变,X线检查腰部椎体前部上下缘凹陷、中后部呈驼峰状突起。1999年首次发现SEDT的致病基因为SEDL,迄今为止已在SEDL基因上发现47种突变,其中缺失突变最为常见。本文简要综述了SEDL基因的结构与功能以及SEDT的分子遗传学研究进展,有助于SEDT的基因诊断与产前诊断。The SEDL gene in Xp22 causing SEDT was identified in 1999.It is a small gene,which escapes X-inactivation,composed of 6 exons spanning approximately 20 kb of genomic DNA.The coding region is 420 bp in size and encompassed by exons 3,4,5 and 6.The gene encodes a 140-amino acid protein （Sedlin） with homology to genes in yeast.The yeast homolog was characterized as a member of a large multiprotein complex called TRAPP （transport protein particle）,which has a role in the targeting and fusion of the ER （endoplasmic reticulum） to Golgi transport vesicles with their acceptor compartment.Spondyloepiphyseal dsplasia tarda （SEDT） is a radiologically distinct,X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature,dysplasia of the large joints and flattened thoracic and lumber vertebral bodies.Forty-seven different sequence variations have been described in patients with SEDT in various ethnic groups since its identification,including deletions （23/47）,9 splice-site mutations,7 nonsense mutations,6 missense mutations,and 2 insertion mutations.Deletion probably is the most common,accounting for nearly 50% of the types of mutations identified （total 23/47）.We have updated the spectrum of mutations from those described.This paper briefly reviews progress on SEDL Gene Mutation and molecular genetics of SEDT.

关 键 词：SEDL基因 迟发性脊柱骨骺发育不良 分子遗传学 

分 类 号：R681.1[医药卫生—骨科学]