| SEDL基因突变与X连锁迟发性脊柱骨骺发育不良研究进展 |
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| 引用本文： | 夏欣一,周鑫,崔英霞.SEDL基因突变与X连锁迟发性脊柱骨骺发育不良研究进展[J].中国优生与遗传杂志,2010(4):8-10. |
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| 作者姓名： | 夏欣一 周鑫 崔英霞 |
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| 作者单位： | 南京军区南京总医院解放军检验医学研究所中心实验科; |
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| 基金项目： | 江苏省科技厅生殖健康研究技术服务平台项目(BM2008151) |
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| 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。
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| 关 键 词： | SEDL基因 迟发性脊柱骨骺发育不良 分子遗传学 |
Progress on SEDL gene mutation and X-linked spondyloepiphyseal dysplasia tarda |
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| XIA Xin-yi,ZHOU Xin,CUI Ying-Xia..Progress on SEDL gene mutation and X-linked spondyloepiphyseal dysplasia tarda[J].Chinese Journal of Birth Health & Heredity,2010(4):8-10. |
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| Authors: | XIA Xin-yi ZHOU Xin CUI Ying-Xia |
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| Institution: | XIA Xin-yi,ZHOU Xin,CUI Ying-Xia.(Department of Laboratory Medicine,PLA Research Institute of Clinical Laboratory Medicine,Nanjing General Hospital of Nanjing Comm,,Nanjing,Jiangsu 210002,China) |
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| Abstract: | 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 (endoplas... |
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| Keywords: | SEDL gene Spondyloepiphyseal dsplasia tarda Molecular genetics |
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