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1、第3节 人类遗传病人类遗传病是指由于遗传物质的改变而引起 的人类疾病。单基因遗传病多 基 因 遗 传 病染色体异常遗传病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 Aspose Pty Ltd.讨论：人的胖瘦是由基
2、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.抗维生素D佝偻病 并指白化病进行性肌营养不良Evaluation only.Evaluation only. Created w
3、ith 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.唇裂、无脑儿、原发性高血压和青少年型糖尿病等Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.
4、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.v猫叫综合症、21三体综合症和性腺发育不良等。先天性愚型先天性愚型(21(21三体）三体） 性腺发育不良（女性）性腺发育不良（女性）Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.
5、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.环境污染是导致遗传病发病率上升的主要原因。放射性污染化学污染遗传病因Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slides for .NE
6、T 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.遗传病：是指因遗传物质改变引起的人类遗传病.遗传病单基因遗传病（6500种）多基因遗传病（100多种）染色体异常遗传病（100多种）一、人类遗传病概述基因遗传病Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with Aspose.Slid
7、es for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.常显： 多指、并指、软骨发育不全1.单基因遗传病:常隐：白化病、镰刀型细胞贫血症、先天性聋哑、苯丙酮尿症伴X隐：色盲、血友病 伴X显：抗维生素D佝偻病 伴Y： 外耳道多毛症受一对等位基因控制的遗传病。特点：遵循孟德尔遗传规律Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Clien
8、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.常染色体隐性遗传病缺少酪氨酸 酶，不能将酪氨 酸转化为黑色素 ，表现出毛发白 色、皮肤呈淡红 色、畏光等症状 。苯丙酮尿症病征：智力低下，尿 有“发霉”臭味或鼠 尿味。一般可通过尿 检来判断是否患有此 病。Evaluation only.Evaluation only. Created with
9、 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.（1）常染色体显性遗传病多指并指Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Cre
10、ated 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.软骨发育不全病症表现为特殊 类型的侏儒-短肢型 侏儒。智力及体力 发育良好，病人常 作为剧团或马戏团 的杂技小丑。 常染色体显性遗传病Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Create
11、d 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.伴Y染色体遗传病外耳道多毛症X型（或O型）腿 、骨骼发育畸形 （如鸡胸）、生 长缓慢等症状。抗维生素D佝偻病伴X染色体遗传病Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile 5.2.0.0.Created with A
12、spose.Slides for .NET 3.5 Client Profile 5.2.0.0. Copyright 2004-2011 Aspose Pty Ltd.Copyright 2004-2011 Aspose Pty Ltd.由由两对以上两对以上的等位基因控制的人类遗传病的等位基因控制的人类遗传病。2.多基因遗传病原发性高血压、冠心病、哮喘病、青少年 型糖尿病、肥胖症、先天性心脏病等1、不遵循孟德尔遗传规律2、具有家族聚集性3、受后天生活习惯和环境的影响很大病例：特点：Evaluation only.Evaluation only. Created with Aspose.Sli
13、des 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.先天性愚型3、染色体异常遗传病：由染色体异 常引起 的遗传病（21三体综合征）Evaluation only.Evaluation only. Created with Aspose.Slides for .NET 3.5 Client Profile
14、 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.我国遗传病的发病状况：统计表明，我国人口中有20%到25%的人患 有危害轻重不同的遗传病！仅21三体综合征估 计就有不少于100万人.遗传病不仅给患者个人和家人带来痛苦， 而且给家庭和社会造成负担。二、遗传病的监测和预防遗传病的监测和预防：遗传咨询和产 前诊断Evaluation only.Evaluation
15、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.（3）进行遗传咨询医生对咨询对象进行身体检查，了解家 庭病史，对咨询者是否患有某种遗传病 作出诊断；分析判断咨询者所患遗传病的的传递方 式；推算出后代患遗传病的机率；为咨询者提出防治相应遗传病的
16、策、方 法和建议.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.产前诊断 检测手段：羊水检查、B超 检查、孕妇血细胞检查及基 因诊断等手要。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
