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【医学ppt课件】人类遗传病的主要类型

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Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 一、人类的疾病 禽流感非典艾滋病癌症 冠心病色盲坏血病肝炎 大脖子病白化病狂犬病佝偻病 小儿麻痹症流行性感冒 …… 近年来,随着医疗卫生事业的发展,人类 的传染病已逐渐得到控制。而人类的遗传性疾 病却有逐年增高的趋势,遗传病已成为威胁人 类健康的一个重要因素! Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 我国遗传病的发病状况: 统计表明,我国人口中有1/5到1/4的人患 有危害轻重不同的遗传病!每年新出生的儿童 中,有先天性缺陷的约1.3%,其中70%以上是 遗传因素所致。在15岁以下死亡的儿童中,大 约40%是由于各种遗传病或其他先天性疾病所 致。在自然流产儿中,约50%是染色体异常引 起的! 我国人口中患先天性愚型的人就在100万 以上,每年出生的患儿就高达2万人。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 二、人类的遗传病 1、遗传病的概念: 由于遗传物质改变而引起的人类疾病 2、遗传病的类型: 人类遗传病 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 常染色体 X染色体 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 白化病 常染色体上的隐性遗传病 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。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. (2004上海)某男子是白化病基因携带者,其细胞中 可能不含该致病基因的是( ) A、神经细胞B、精原细胞 C、淋巴细胞D、精细胞 D 一对肤色正常的夫妇生了一个白化女儿,他们再生 一个白化男孩的概率是多少? 生一个白化男孩的概率是1/8 生一个男孩白化的概率是1/4 一对肤色正常的夫妇生了一个白化女儿,他们再生 一个白化男孩的概率是多少?生一个男孩白化的概 率是多少? Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 多指 常染色体上的显性遗传病 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 进行性肌营养不良 X染色体上的隐性遗传病 肌肉萎缩无 力,行走困 难。患者后 期双侧腓肠 肌呈假性肥 大。一般于4 -5岁发病, 20岁前死亡 。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 唇裂 多基因遗传病 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 苯丙酮尿症 常染色体上的隐性遗传病 缺少正常基因P ,体细胞缺少 一种酶。智力 低下,60%患儿 有脑电图异常 。头发细黄, 皮肤色浅和虹 膜淡黄色,惊 厥,尿有“发 霉”臭味或鼠 尿味。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 外耳道多毛症 Y染色体上的遗传病 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 先天性愚型 染色体异常遗传病 (21三体综合征) 体细胞内多了一 条21号染色体。 智力特别低下, 身体发育缓慢且 常表现出特殊面 容:眼距宽、外 眼角上斜、口常 半张,舌常伸出 口外。约半数同 时患有先天性心 脏病,部分在胚 胎期夭折。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. (2004北京)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 (1999上海)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?( ) ①23A+X②22A+X③21A+Y④22A+Y A、①和③B、②和③ C、①和④D、②和④ C Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 抗维生素D佝偻病 X染色体上的显性遗传病 X型(或O型)腿、骨骼发育畸形 (如鸡胸)、生长缓慢等症状。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 常显显常隐隐伴X隐隐 性 伴X显显性 伴Y遗传遗传 病例 特点 多指、并 指、软骨 发育不全 通常为代 代相传、 男女发病 概率相等 白化病、 先天性聋 哑、苯丙 酮尿症 通常为隔 代遗传、 男女发病 概率相等 色盲、血 友病、进 行性肌营 养不良 通常为隔 代遗传和 交叉遗传 、男患者 多于女患 者 抗维生素 D佝偻病 通常为代 代遗传、 男患者少 于女患者 外耳道 多毛症 后代只有 男性患者 ,且代代 发病 单基因遗传病的类型 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 判断下列遗传病的类型: 常染色体显性遗传病X染色体隐性遗传病 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 人类单基因遗传病类型的判断: 无中生有为隐性, 隐性遗传看女病。 女病父正非伴性, 父子都病为伴性。 有中生无为显性, 显性遗传看男病。 男病母正非伴性, 母女都病为伴性。 Through this publicity campaign, further improve the sense of business integrity of tourism enterprises to help tourism consumers and operators to safeguard the legitimate rights and interests, to ensure that our City's tourism sustainable, healthy and coordinated Development. 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、 原发性高血压、青少年型糖尿病等。 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21三体综合征(先天性愚型)和 Turner综合征(性腺发育不良)等。
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