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单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,2019/12/18,#,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,讨论:,人的胖瘦是由基因决定的吗?,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,猫叫综合症,、,21,三体综合症,和,性腺发育不良,等。,先天性愚型,(21,三体),性腺发育不良(女性),Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,(,1,)常染色体显性遗传病,多指,并指,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,由,两对以上,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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策、方法和建议,.,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,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.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,二、遗传病的预防,优生,优生的措施:,(,1,)禁止近亲结婚,(,2,)适龄生育,(,3,)进行遗传咨询,(,4,)产前诊断,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,科学家推算出:每人都携带有,5-6,个,隐性,的致病基因。近亲之间很可能携带相同的,隐性,致病基因,若近亲结婚生有遗传病小孩的机率比非近亲结婚增大许多倍。如:表兄妹结婚生苯丙酮尿症患儿的机率,增大,8.5,倍,;生白化病患儿的机率,增大,13.5,倍,。,(,1,)禁止近亲结婚,达尔文的悲剧,-,近亲结婚的后果,达尔文,与,表姐,结婚,生了,10,个孩子,,其中,3,个早年夭折,其余都患有程度不同的精神病,还有,3,人终生不育。,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,(,2,)适龄生育,生殖医学表明,女子,生育的最适年龄为,24,到,29,岁,。,过早生育,由于女子自身发育尚未完成,所生子女发病率高。,过晚生育,则由于体内积累的导致突变的因素增多,生患病小孩的风险也相应增大。,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,色盲、血友病,多指、并指、软骨发育不全,白化病、镰刀型细胞贫血症、,先天性聋哑、苯丙酮尿症,抗维生素,D,佝偻病,外耳道多毛症,小结,常隐,常显,伴,X,显,伴,X,隐,伴,Y,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,小结,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,多基因遗传病,猫叫综合征(第,5,号染色体部失缺失),21,三体综合征(先天性愚型),染色体异常遗传病,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,1.,下列各种疾病是由一对等位基因控制的是(),A.,软骨发育不全,B.,原发性高血压,C.21,三体综合征,D.,哮喘病,A,2,、人类基因组测序是测定人的()条染,色体的碱基序列。,A,、,46 B,、,23 C,、,24 D,、,44,C,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,3,、下列人群中哪类病的传递符合孟德尔遗传规律(),A,、单基因遗传病,B,、多基因遗传病,C,、染色体异常遗传病,D,、传染病,A,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,5,、,人类,21,三体综合症的成因是在生殖细胞形成,的过程中,第,21,号染色体没有分离。若女患者与正常人结婚后可以生育,其子女患该病的概率是(),A,、,0 B,、,1/4 C,、,1/2 D,、,1,C,4,、在下列人类生殖细胞中,哪两种生殖细胞的结合会产生先天愚型的男性患儿?(),23+X22+X21+Y22+Y,A,、和,B,、和,C,、和,D,、和,C,Evaluation only.,Created with Aspose.Slides for.NET 3.5 Client Profile 5.2.0.0.,Copyright 2004-2011 Aspose Pty Ltd.,
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