第八章 生化遗传学的.pptVIP

第八章生化遗传病;第一节 血红蛋白病 ;图：Hb的结构;图: Hb的四聚体结构;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;2.Hb种类;Hb 类型：;3.人类珠蛋白基因结构和表达; 类?珠蛋白基因簇:;4．Hb的发育演变与遗传控制;?Hb发育演变与遗传控制的特点;二．Hb病的分子遗传学;（一）异常Hb病;（2）不稳定血红蛋白病;（3）血红蛋白M病;（4）氧亲和力改变的异常Hb病;2.异常血红蛋白的分子基础;（2） 终止密码突变：;（4） 移码突变：;（5）密码子的缺失和插入： 肽链基因中增加或减少一或多个密码子 例； Hb Gum Hiu;（6） 融合基因：;（二）地中海贫血（地贫） （Thalassemia-Thal);１．? 地中海贫血（? 地贫）;⑵ ? 地贫的临床分类： ;② Hb H病;③ 轻型?地贫;⑶ ?地贫的分子机制（自学）;(1) ?地贫类型:;图：地中海贫血;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.; ?地贫杂合子（ ?o?Ａ 、?+?Ａ）：;A.正常 B.β地贫杂合子 C.α地1杂合子 D. 重型β地贫;第三节 酶蛋白病; 酶活性降低或缺乏的原因; 遗传性酶病的发病机理;一.氨基酸代谢病; ?主要临床症状： 智力低下, 皮肤白, 汗有腐臭味;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;(二) 白化病（albinsm） 终产物↓;图: 白化病;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;二. 糖代谢病; 临床症状：肝大，肝硬化， 运动、智力障碍;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;（二）糖原贮积症Ⅰ型：底???↑;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.;掌握与熟悉;Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5