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

• Editorial • Previous Articles     Next Articles

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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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