單基因遺傳病的研究策略-預(yù)覽頁
【正文】 T IGT NGT NGT D IGT D IGT + + + + + + + + + + + m/N m/N m/N m/N m/N m/N m/N m/N m/N m/N m/N Ⅳ 1 Ⅳ 2 Ⅳ 5 Ⅳ 7 Ⅳ 9 17 18 11 16 14 IGT NGT NGT NGT NGT + + + + + m/N m/N m/N m/N m/N Ⅲ 15 Ⅲ 16 Ⅲ 17 Ⅲ 18 Ⅲ 19 Ⅳ 3 Ⅳ 4 Ⅳ 6 Ⅳ 8 41 38 34 33 30 15 11 7 12 NGT NGT NGT NGT NGT NGT NGT NGT NGT N/N N/N N/N N/N N/N N/N N/N N/N N/N 血糖和胰島素水平 G l u c o s e0246810121416180 39。A N PN or m alD i ab e t e s * * * * * * * * * *m m ol L 1 I n s u l i n0100200300400500600700800900039。A N PN o r m a lD i a b e te sp m o l / L ** ** * ** **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。 6039。 6039。 1 2 0 39。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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