课件：理科热门专业.ppt

双亲无病时，儿子有1/2 发病风险，女儿无发病风险。儿子如果发病，母亲肯定是携带者，女儿有1/2可能性是携带者； 男性患者的兄弟、外祖父、舅父、姨表兄弟、外甥、外孙等也可能是患者； 女性患者的父亲一定是患者，母亲一定是携带者； 男性发病的可能性大大高于女性，系谱中常常只见男性患者； X连锁隐性遗传病的系谱特征 Y连锁遗传病 (Y-linked inheritance) 决定某种性状或疾病的基因位于Y染色体上，则这种性状或疾病的传递过程叫Y-连锁遗传(Y-linked inheritance) ；由于Y染色体只存在于男性个体，其遗传方式为全男性遗传(holandric inheritance)，即Y-连锁性状只由父亲传递给儿子，再由儿子传递给孙子； 多毛耳(MIM 425500) Y连锁遗传病 资料可以编辑修改使用 学习愉快！ 课件仅供参考哦， 实际情况要实际分析哈！ 感谢您的观看 * 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 could be critical to the development of an effective treatment for this and other similar diseases. * * 克立夫兰的科学家和医生4月29日向外界公布了一项鼓舞人心的囊性纤维化基因治疗临床试验结果和一种新型“压缩”DNA（compacted DNA）技术。由克利夫兰大学医院(University Hospitals of Cleveland, UHC)，凯西西部保留地大学(Case Western Reserve University，CWRU)医学院，丹佛儿童医院（Childrens Hospital of Denve），非盈利组织囊性纤维化基金会下属的囊性纤维化基金会治疗公司（Cystic Fibrosi