第四章 遗传方式.pptVIP

发病年龄延迟－举例 亨廷顿舞蹈病（Huntington Disease） 多囊肾病（Polycystic kidney disease ） 血色素沉着病（Hemochromatosis） 家族性Alzheimer病（Familial Alzheimer disease） 常染色体显性遗传的乳腺癌（AD form of breast cancer） * All affected individuals should have an affected parent Both sexes should be equally affected Roughly 50% of the offspring of an affected individual should also be affected 亨廷顿氏舞蹈症是一种家族显性遗传型疾病。患者由于基因突变或者第四对染色体内 DNA(脱氧核糖核酸)基质之 CAG三核甘酸重复序列过度扩张,造成脑部神经细胞持续退化，机体细胞错误地制造一种名为“亨廷顿蛋白质”的有害物质。这些异常蛋白质积聚成块，损坏部分脑细胞，特别是那些与肌肉控制有关的细胞，导致患者神经系统逐渐退化，神经冲动弥散，动作失调，出现不可控制的颤搐，并能发展成痴呆，甚至死亡。 病因主要是家族遗传或者基因受到外部刺激而发生突变。只要自双亲任一方遗传缺陷的基因,皆会表现出病征。病征主要表现为：1.情绪异常，变得冷漠、易怒或忧郁。2.手指、腿部、脸部或身体出现不自主动作。3.智力衰减，判断力、记忆力、认知能力减退。一般来说，导致患者死亡的原因是因为突然跌倒或者感染其他并发症。目前药物可以控制、减缓情绪波动和动作问题，但无法彻底根治该疾病。 * Scoliosis 脊柱侧凸； kyphoscoliosis 脊柱后侧凸； kyphosis 驼背,脊柱后凸 * Dilation of aorta 主动脉扩张 * * Usually there is no previous family history The most likely place to find a second affected child is a sibling of the first * Usually only males affected No cases of male to male transmission All the affected males can be linked through unaffected carrier females * Disease that can be caused by mutations at different loci in different families is said to exhibit locus heterogeneity OI - subunits of procollagen triple helix are encoded by two genes one on chr 17 and the other on chr 7 mutation in either of these genes can alter the structure of the collagen molecules and lead to OI disease states are often indistinguishable!! be wary of testing for the wrong mutation and offering reassurance!! * Penetrance may be complete, but severity of disease can vary greatly Well-studied example is neurofibromatosis type 1, or von Recklinghausen disease (named after the German physician who described it in 1882) Parent with mild expression of disease (so mild they may not know they carry gene), can transmit gene to child who can have severe expression Provides a mechanism for disease genes to survive at higher frequencies in populations 神经纤维瘤病遗传性疾病，其特点为具有多个神经纤维瘤，常伴随有身体畸变，易导致