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胰岛素受体异常症是由于胰岛素受体基因发生变异,产生对胰岛素的抵抗。特征为空腹血中胰岛素值从数十高达数百μU/L的特异性综合征。一、胰岛素受体结构胰岛素受体基因位于19对染色体上,是由22个外显子组成的至少为150kb较大的基因。胰岛素受体mRNA,经组织特异性剪接,在粗面内质网内合成,不含有外显子11的1343个(12个氨基酸密码)的氨基酸和含有外显子11的1355个氨基酸组成的一条链的前体。从N末端27个氨基酸组成的单肽开始,切断单肽,在特异性的N—糖基化部位连接糖链,组合成甘露糖型(190K
Insulin receptor abnormality is due to insulin receptor gene mutation, resulting in resistance to insulin. Features a fasting blood insulin value ranging from tens to hundreds of μU / L of specific syndromes. First, the insulin receptor structure Insulin receptor gene is located on 19 pairs of chromosomes, is composed of 22 exons at least 150kb larger genes. Insulin receptor mRNA, which is tissue-specific splicing and synthesized in the rough endoplasmic reticulum, excludes 1343 amino acids (12 amino acids) of exon 11 and 1355 amino acids containing exon 11 Chain precursor. Starting from a single peptide consisting of 27 amino acids at the N-terminus, the single peptide was cleaved and the sugar chains were linked to a specific N-glycosylation site to form a mannose type (190K