第五章-单基因遗传病.pptVIP

2021/2/6 * 如用d和e分别代表这两个有关的隐性基因,父亲可能是ddEE（聋哑由dd引起）,母亲是DDee（聋哑由ee引起）,他们的子女将全是杂合子DdEe, 因此都有正常的听觉。我们把这种现象称为互补。 2021/2/6 * （十）遗传早现(genetic anticipation) 有些遗传病在世代传递过程中有发病年龄逐代超前和病情症状逐代加剧的现象。 20世纪90年代后,发现遗传早现与不稳定的DNA重复序列有关。 如:脆性X染色体智力障碍综合征,FMR-1基因5’不翻译区有不稳定的(CGG)n重复序列。女性传递时,重复次数通常会增加,导致子代发病年龄超前和病情症状加剧的现象。而通过男性传递时,没有这种现象。 2021/2/6 * （十一）拟表型(phenocopy) 环境因素引起的疾病模拟了由遗传决定的表现型。 如严重蛋白质缺乏引起的恶性营养不良症(kwashiokor),症状类似于遗传性疾病——白化病 2021/2/6 * 返回 2021/2/6 * 返回 2021/2/6 * 概率与概率比之间的关系:可以相互转换,分母相同时,分子之比即为概率比;分母不相同时,则通分后的分子之比则为概率比 2021/2/6 * 概率比的含义 1）在特定的婚配类型的家庭,每一胎出生某种孩子的概率。 子代基因型: Dd dd 表现型:患者 正常 概率: 1/2 1/2 概率比: 1 : 1 2021/2/6 * 2）在特定的婚配类型的家庭,代表众数概率-----不同同胞组合里,符合特定遗传比率的家庭数最多 2021/2/6 * 3）在特定的婚配类型家庭的所有同胞合计,将是符合遗传比率的 返回 About 30,000 Americans have HD and about 150,000 more are at risk of inheriting the disease from a parent. The HD gene, whose mutation results in Huntington disease, was mapped to chromosome 4 in 1983 and cloned in 1993. The mutation is a characteristic expansion of a nucleotide triplet repeat in the DNA that codes for the protein huntingtin. As the number of repeated triplets - CAG (cytosine, adenine, guanine) - increases, the age of onset in the patient decreases. Furthermore, because the unstable trinucleotide repeat can lengthen when passed from parent to child, the age of onset can decrease from one generation to the next. Since people who have those repeats always suffer from Huntington disease, it suggests that the mutation causes a gain-of-function, in which the mRNA or protein takes on a new property or is expressed inappropriately. With the discovery of the HD gene, a new predictive test was developed that allows those at risk to find out whether or not they will develop the disease. Animal models have also been developed, and we know that mice have a gene that is similar to the human HD gene. Research on understanding the mechanism that causes the triplet repeat to increase is ongoing, since its discovery