先天性糖基化病的研究进展3-中国病理生理杂志.pdf

( ) ·284 · 中国病理生理杂志 　Chinese Journal of Pathophysiology 　2003 ,19 2 : 284 - 288 ( ) [文章编号] 　1000 - 4718 2003 02 - 0284 - 05 先天性糖基化病的研究进展 王晓波 , 　刘飞鹏 (暨南大学生命科学技术学院生物工程学系 , 广东 广州 510632) Progress in congenital disorders of glycosylation WAN G Xiao - bo , L IU Fei - peng ( Dep artment of B iotechnology , College of L fi e Science and Technology , J inan University , Guangz hou 510632 , China) ( ) 　　【A Revie w】　Congenital disorders of glycosylation CDG are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystemic diseases often involving severe p sychomotor retardation . The CDG causing sialic acid deficiency of N - glycans can be diagnosed by isoelectric focusing of serum transferrin . Glycan structural analy sis , yeast genetics and knockout animal models are essential tools in the elucidation of novel CDG. In this re view , we focus on the current knowledge of the pathogenesis and identification of nine primary glycosylation diseases. 　　[ 关键词] 　先天性糖基化病 ; 糖基化 ; N - 聚糖 ; 转铁蛋白 [ KEY WORDS] 　Congenital disorders of glycosylation ; Glycosylation ; N - glycans ; Transferrin 　　 　　[ 中图分类号] 　Q7 　　　　　[文献标识码] 　A ( ( 　　先天性糖基化病 congenital disorders of glycosyla 聚糖可以是 N - 连接方式 结合到蛋白的 Asn 残基 )