高中生物必须修读二5_3人类遗传病.ppt
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人类遗传病
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
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研究性课题调查人群中的人类遗传病
一、人类常见遗传病类型
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1、我国遗传病患者占总人口比例:20%-25%
2、新生儿先天性遗传缺陷约为1.3%
3、在自然流产中,约50%是染色体异常引起!
4、我国人口中患21三体综合征的人在100万以上。
5、每年仅由染色体畸变,造成52万例自发流产。
我国遗传病的发病现状:
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苯丙氨酸
酪氨酸(正常)
苯丙酮酸
积累
正常酶无法合成
案例一:西红柿女孩
酶
损伤神经系统
另一种酶
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其家庭遗传系谱图:
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1、单基因遗传病
受一对等位基因控制的遗传病。
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软骨发育不全
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