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單基因遺傳病的研究策略-資料下載頁

2025-05-28 01:36本頁面
  

【正文】 * ** **總結(jié) 1 Aniridia caused by PAX6 gene mutation PAX6 mutation caused impaired glucose tolerance (IGT) PAX6related IGT was associated with age 問 題 ? Does IGT e from deficiency of insulin? ? Do these patients have insulin resistance? ? Do patients have a defect in insulin processing? PAX6 Had No Effect on the Transcriptional Activity of the Insulin Promoter 胰島素耐受沒有異常 IG T T0123456039。 15 39。 3039。 45 39。 6039。 9039。A N PN o r m a lm m o l / L胰島素原顯著高 P r o i n s u l i n020406080100120140160039。 3039。 6039。 120 39。A N PN or m alD i ab e t e sp m o l / L ** ** ** ** **總結(jié) 2 PAX6 had no effect on the insulin transcription IGT was not result from insulin resistance IGT may e from a defect in insulin processing PC1 的功能 Proinsulin insulin in Pancreas POMC ACTH alphaMSH in Hypothalamus Marcinkiewicz et al. Proc Natl Acad Sci 90, 1993 Naggert et al. Nature Geics 10, 1995 ACTH和 AlphaMSH水平 A C T H00 . 0 20 . 0 40 . 0 60 . 0 80 . 10 . 1 20 . 1 4 0 39。 6 0 39。 1 2 0 39。A N PN o r m a l * * * *al p h a M S H01 039。 6039。 12039。A N PN or m al ** ** *總結(jié) 3 Deficiency of PC1 caused by PAX6 mutation was indicated 假 說 PAX6 mutation ? PC1 deficiency abnormal glucose homeostasis PAX6突變小鼠表現(xiàn)與人相符 PAX6突變導(dǎo)致 PC1缺乏 可能的調(diào)控模型 Thank you!
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