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1、第六章 遗传与人类健康 Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.人类有很多疾病,如红绿色盲、血友病、白 化病都是遗传病。对人类基因的研究表明, 人类的大多数疾病,甚至普通感冒都可能
2、与 人类的遗传基因有关。问题:人的胖瘦是由基因决定的吗?Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.人的胖瘦是由多种原因造成的。有的肥胖病可能是 由遗传物质决定的,有的可能是后天营养过
3、多造成 的,但大多数情况下,肥胖是由于遗传物质和营养 过多共同作用的结果。Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.什么是遗传病?凡是由于生殖细胞或受精卵里的遗传物质发生了 改变,从
4、而使发育成的个体患疾病,这类疾病都称为 遗传性疾病,简称遗传病。第一节 人类遗传病的主要类型Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.Evaluation only.Evaluati
5、on only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.
6、0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.人类遗传病人类遗传病 的概念:通常是指由于生殖细胞或受精卵遗 传物质的改变而引起的人类疾病。人类遗传病 的类型:单基因遗传病多基因遗传病染色体异常遗传病显性遗传病隐性遗传病Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Clien
7、t Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.(一)单基因遗传病概念:受一对等位基因控制的遗传病。显性致病基因常染色体:伴X染色体:多指、并指、短指抗维生素D佝偻病 隐性致病基因常染色体:伴X染色体:白化、苯丙酮尿症、镰刀 型细胞贫血症色盲症、血友病、进行 性肌营养不良伴Y染色体:男性外耳道多毛症Evaluation only.Evalua
8、tion only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.并指多指短 指是由常染色体上的显性基因控制的遗传病是由常染色体上的显性基因控制的遗传病Evaluation only.Evaluation only. Created with Asp
9、ose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.抗维生素佝偻病是由染色体上的显性基因染色体上的显性基因控制的。抗维生素佝偻病Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client P
10、rofile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.外耳廓多毛症是由Y Y染色体上的显性基因染色体上的显性基因控制的。Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Sl
11、ides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.隐性遗传病:由隐性基因控制的遗传病。进行性肌营养不良(伴X染色体隐性)苯丙酮尿症(常染色体隐性)白化病(常染色体隐性)Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .N
12、ET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copy
13、right 2004-2011 Aspose Pty Ltd.(二)多基因遗传病:由多对等位基因控制。常表现出 家族性聚集现象,且比较容易受环境影响。较常见的有唇裂(俗称兔唇)、无脑儿、原发性高较常见的有唇裂(俗称兔唇)、无脑儿、原发性高 血压、青少年型糖尿病等。血压、青少年型糖尿病等。 Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.
14、0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.唇裂多基因遗传病,Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 A
15、spose Pty Ltd.(三)染色体异常遗传病:患者大多寿命短暂,甚至在胚胎期就死亡造成流产。较常见 的有21三体综合症(先天性愚型)和Turner综合症(性腺发育不 良)等。性腺发育不良Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright
16、 2004-2011 Aspose Pty Ltd.Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.猫叫综合征猫叫综合征原因:第5号 染色体部分 缺失。常染色体异常遗传病症状:两眼距 离较远,耳位 低下,生长发 育缓慢,存在 着严重的智力 障碍。患儿哭 声轻,音调高 ,很像猫叫。Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NET 3.5 Client Prof