SNP和突变之间的差异

关键区别 - SNP与突变

脱氧核糖核酸variations are prominent among individuals. Single nucleotide polymorphism (SNP) and mutation are two such variations that result in thenucleotide生物体的序列差异。SNP和突变之间的关键区别在于SNP represents a single nucleotide difference in DNA while mutation represents any change of DNA including single to many nucleotide differences.SNP is one kind of a mutation.

内容
1.Overview and Key Difference
2.什么是SNP
3.什么是突变
4。Side by Side Comparison – SNP vs Mutation
5。概括

What is an SNP?

单核苷酸多态性（SNP）定义为A的单个核苷酸的差异脱氧核糖核酸at a particular location in the基因组。在大多数个体中，可以存在相同的基础序列，而某些个体在DNA的同一位置可能具有单个核苷酸差异。这些是有助于phenotypicvariations, variation in anthropometric characteristics, disease probability characteristics and responses to the environments. This is the most common遗传变异found among the people. It is assumed that in every 300 nucleotides, one SNP can be seen. This reveals that there are more than 10 million SNPs in the human genome. SNPs in human genome offer a resource for mapping complex genetic traits.

SNP是一种称为一种称为的突变point mutation。当SNP发生在geneor in the regulatory region of a gene, it affects the function of the gene by playing a greater influence on the disease. Most SNPs have no effect on health or development. Nevertheless, some of these genetic differences have proven to be very important in the study of human health. Researchers have found SNPs that may help to predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases.

Some well-known diseases such as sickle cell anaemia, βthalassemia和囊性纤维化occur mainly due to SNPs. People show different susceptibility levels for a wide range of human diseases. It is primarily due to SNPs in the human genome. The severity of illness and how the body responds to treatments are also decided by the SNPs found in the human genome. For example, individuals with one base mutation in the APOE gene (apolipoprotein gene) show a higher risk of getting阿尔茨海默氏病。

DNA测序将有助于识别SNP。焦丝测序是一种高吞吐测序技术，可以通过创建唯一的序列在多个平行序列之间检测等位基因变化（SNP）。通过检测单核苷酸多态性pcr从映射基因组到跟踪特定突变是许多类型的遗传分析所必需的。位于基因之间的SNP用作识别和定位致病基因的生物标记。

什么是突变？

Mutation refers to any change in the脱氧核糖核酸sequence。突变是由核苷酸的插入，核苷酸缺失，核苷酸反转，核苷酸重复以及DNA中核苷酸重排的引起的。这些变化会导致对表型的负面或积极影响，并且某些突变被随后的世代遗传。突变起源于DNA复制或由于不同的环境因素，例如紫外线，香烟烟，辐射等。

在DNA中可见小规模和大尺度突变。小规模的突变是由于缺失，插入，重复，单核苷酸差异，反转等引起的。大规模突变是由于较大面积的缺失，数量变化的再现，基因丢失，基因副本的丢失以及运动的损失以及运动的移动以及来自原始位置的DNA的较大部分等。突变将导致表达错误蛋白质的基因结构的改变。有时突变会导致阳性特征和良好的蛋白质。突变对于进化很重要。否则，人口可能无法适应不断变化的充满挑战的环境。因此，突变被认为是进化背后的驱动力。但是，大多数突变是中性的。

SNP和突变有什么区别？

SNP与突变
SNP is DNA variation due to single nucleotide difference in the DNA.	突变是DNA序列中发生任何变化引起的DNA变异。
变化
这涉及DNA的单一变化。	这包括单次到许多核苷酸变化。
发生
SNP非常普遍，人口中的频率超过1％。	突变非常罕见，并且以少于人口的1％的频率存在。

概括– SNP vs Mutation

A mutation is defined as any change occurred in a DNA sequence comparatively to the normal DNA sequence. These are the changes caused due to mistakes of脱氧核糖核酸replicationor the influence of the different environmental factors. Mutations happen via insertions, deletions, inversions, duplications and rearrangements of nucleotides.基因突变cause structural and functional changes in the genes, resulting in significant differences in the next generations. However, inherited diseases are rarely caused by mutations since inherited disease are often recessive. SNP is the single nucleotide variation in a particular DNA sequence among the individuals. In SNPs, only one nucleotide difference can be observed at a particular location of the sequence. SNP is also a kind of a mutation known as point mutation as it changes DNA by changing one nucleotide from the considering sequence.

Reference:
1.“什么是基因突变，如何发生突变？- 遗传学家庭参考。”美国国家医学图书馆。美国国立卫生研究院网络。2017年2月24日
2. González, Pelayo, Antonio Díez-Juan, Eliecer Coto, Victoria Álvarez, Julian R. Reguero, Alberto Batalla, and Vicente Andrés. “A single-nucleotide polymorphism in the human p27 kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction.” BMC Biology. BioMed Central, 02 Apr. 2004. Web. 24 Feb. 2017.

Image Courtesy:
1. “Single nucleotide polymorphism substitution mutation diagram – cytosine to thymine” By NHS National Genetics and Genomics Education Centre – Flickr (CC BY 2.0) viaCommons Wikimedia
2. NASA/David Herring的“ DNA UV突变” - NASA，（公共领域）通过Commons Wikimedia