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所在平台: Udemy |
课程主页: https://www.udemy.com/course/dna-mutation-genetic-disorders/
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课程名称：DNA突变与遗传性疾病 课程概述： DNA是储存和复制生物信息的精密媒介，构成了细胞、器官乃至整个生物体的运作蓝图。DNA复制的高保真度得益于数百个参与校对和损伤修复的基因。人体的所有细胞在一生中都可能发生DNA序列的变化，即基因突变。这些突变发生在细胞分裂复制过程中，可能导致癌症等遗传性疾病，也可能在漫长的时间里帮助人类更好地适应环境。DNA会不断受到内源性活性代谢物、治疗药物以及过量环境诱变剂（如紫外线）的损害。DNA突变包括染色体畸变和位点特异性突变（单基因突变），如缺失、重复和倒位。遗传性疾病的发生，一方面是由于从父母那里遗传了改变的基因，增加了患病风险；另一方面，一些基因改变也可能随机发生。患病症状的严重程度取决于发生突变的具体基因。许多疾病和健康问题都由DNA突变引起，其中常见的包括阿尔茨海默病、某些癌症、囊性纤维化、唐氏综合征和镰状细胞病。研究表明，DNA突变比以往认为的更为普遍。本课程将概述人类基因组中主要的DNA突变类型及其对人类健康的影响。
DNA is a remarkably precise medium for copying and storing biological information. It serves as a design for cellular machinery that permits cells, organs, and even whole organisms to work. The fidelity of DNA replication results from the action of hundreds of genes involved in proofreading and damage repair. All human cells can acquire genetic changes in their DNA all over life. Genetic mutations are changes to the DNA sequence that happen during cell division when the cells make copies of themselves. Mutations in the DNA can cause genetic illnesses such as cancer, or they could help humans better adapt to their environment over time. The endogenous reactive metabolites, therapeutic medicines, and an excess of environmental mutagens, such as UV rays all continuously damage DNA, compromising its integrity. One or more chromosomal alterations and point mutations at a single site (monogenic mutation) including deletions, duplications, and inversions illustrate such DNA mutations. Genetic conditions can occur when an altered gene is inherited from parents, which increases the risk of developing that particular condition, or some gene alterations can happen randomly. Moreover, symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. Some of the most common genetic conditions are Alzheimer's disease, some cancers, cystic fibrosis, Down syndrome, and sickle cell disease. Interestingly, scientists find that DNA mutations are more common than formerly thought. This course outlines the main DNA mutations that occur along the human genome and their influence on human health.
