Human DNA Mutations and their Impact on Genetic Disorders.

Q3 Biochemistry, Genetics and Molecular Biology
Safia Samir
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Abstract

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.

人类DNA突变及其对遗传疾病的影响。
DNA是一种非常精确的复制和存储生物信息的介质。它是细胞机械的设计,允许细胞、器官甚至整个生物体工作。DNA复制的保真度源于数百个参与校对和损伤修复的基因的作用。所有的人类细胞都可以在一生中获得DNA的基因变化。基因突变是指在细胞分裂过程中,当细胞复制自己时,DNA序列发生的变化。DNA突变可能会导致遗传疾病,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。内源性反应性代谢产物、治疗药物和过量的环境诱变剂,如紫外线,都会持续损害DNA,损害其完整性。单个位点的一个或多个染色体改变和点突变(单基因突变),包括缺失、重复和反转,说明了这种DNA突变。当基因从父母那里遗传时,可能会发生遗传疾病,这会增加患上这种特殊疾病的风险,或者一些基因改变可能随机发生。此外,遗传疾病的症状取决于哪个基因发生了突变。突变导致了许多不同的疾病和状况。一些最常见的遗传疾病是阿尔茨海默病、一些癌症、囊性纤维化、唐氏综合症和镰状细胞病。有趣的是,科学家们发现DNA突变比以前想象的更常见。这篇综述概述了人类基因组中发生的主要DNA突变及其对人类健康的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Recent patents on biotechnology
Recent patents on biotechnology Biochemistry, Genetics and Molecular Biology-Biotechnology
CiteScore
2.90
自引率
0.00%
发文量
51
期刊介绍: Recent Patents on Biotechnology publishes review articles by experts on recent patents on biotechnology. A selection of important and recent patents on biotechnology is also included in the journal. The journal is essential reading for all researchers involved in all fields of biotechnology.
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