上海交通大学学报（医学版）

›› 2012, Vol. 32 ›› Issue (9): 1171-.doi: 10.3969/j.issn.1674-8115.2012.09.010

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人类遗传病致病基因克隆及其生物学功能研究进展

王铸钢1,2, 顾鸣敏1   

  1. 上海交通大学 1.基础医学院医学遗传学教研室, 上海 200025； 2.医学院附属瑞金医院实验动物研究中心, 上海 200025
  • 出版日期:2012-09-28 发布日期:2012-09-29
  • 作者简介:王铸钢（1960—）, 男, 教授, 博士, 博士生导师, 现任上海交通大学医学院附属瑞金医院实验动物研究中心主任、上海南方模式生物研究中心主任；电子信箱: zhugangw@shsmu.edu.cn。
  • 基金资助:

    国家自然科学基金（31071107, 30530390）

Research advances in cloning and functional studies on the genes causing human genetic disorders

WANG Zhu-gang1,2, GU Ming-min1   

  1. 1.Department of Medical Genetics, Basic Medical College, Shanghai Jiaotong University, Shanghai 200025, China；2.Research Centre for Experimental Medicine of Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Online:2012-09-28 Published:2012-09-29

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摘要：

近20年来，遗传病致病基因克隆及其生物学功能研究取得了快速发展。然而，仍有许多突变基因的致病机制仍未明确。该文简要介绍了遗传病的基本特征，综述了遗传病致病基因克隆和机制研究的进展，并介绍了遗传病基因功能研究的2项进展，其中之一是成纤维细胞生长因子9 (FGF9)的错义突变（S99N）导致多发性骨性连接综合征；另一个例子是Palladin敲除小鼠出现神经管闭合不全，伴有内脏外露、胎肝萎缩及胚胎造血功能障碍，最后导致胚胎死亡。

关键词: 遗传病, 致病基因, 发病机制, FGF9基因, 多发性骨性连接综合征, Palladin基因, 神经管闭合不全

Abstract:

In the past 20 years, cloning and functional studies on the genes causing human genetic disorders has been developing repidly. However, the function of most disease genes still remains unknown. This paper briefly describes the basic characteristics of inherited diseases, then reviews the progress in disease gene cloning and pathogenic mechanism, and two achievements were presented, one is that the fibroblast growth factor 9 (FGF9) missense mutation (S99N) causes the multiple synostoses syndrome, another is that the disruption of palladin results in neural tube closure defects, herniation of intestine and liver, fetal liver atrophy, defects in definitive erythropoiesis, and embryonic lethality in mice.

Key words: genetic disorders, disease-gene, pathogenesis, FGF9 gene, multiple synostoses syndrome, paladin gene, neural tube closure defects