Department of Biochemistry and Molecular Biology, Theodor Bilharz Research Institute, Giza, Egypt.
Recent Pat Biotechnol. 2024;18(4):288-315. doi: 10.2174/0118722083255081231020055309.
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 review outlines the main DNA mutations that occur along the human genome and their influence on human health. The subject of patents pertaining to DNA mutations and genetic disorders has been brought up.
DNA 是一种非常精确的复制和存储生物信息的介质。它作为细胞机制的设计蓝图，使细胞、器官甚至整个生物体能够正常工作。DNA 复制的保真度源于涉及校对和损伤修复的数百个基因的作用。在人的一生中，所有的细胞都可以在其 DNA 中获得遗传变化。基因突变是指在细胞分裂过程中发生的 DNA 序列变化，当细胞自我复制时就会发生这种变化。DNA 中的突变可导致遗传疾病，如癌症，或者随着时间的推移，它们可以帮助人类更好地适应环境。内源性反应性代谢物、治疗药物和过量的环境诱变剂，如紫外线，都会持续破坏 DNA，损害其完整性。一个或多个染色体改变和单个位点的点突变（单基因突变），包括缺失、重复和倒位，说明了这种 DNA 突变。当一个改变的基因从父母那里遗传下来时，就会发生遗传状况，这会增加患特定疾病的风险，或者一些基因改变可能是随机发生的。此外，遗传状况的症状取决于哪个基因发生了突变。有许多不同的疾病和状况是由基因突变引起的。一些最常见的遗传状况包括阿尔茨海默病、某些癌症、囊性纤维化、唐氏综合征和镰状细胞病。有趣的是，科学家发现 DNA 突变比以前认为的更为常见。这篇综述概述了发生在人类基因组中的主要 DNA 突变及其对人类健康的影响。还提到了与 DNA 突变和遗传疾病相关的专利主题。
