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相关概念视频

Mutations01:35

Mutations

38.3K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
38.3K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

38
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
38
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

47
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
47
Mutations in Microorganisms01:18

Mutations in Microorganisms

36
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
36
Viral Mutations00:36

Viral Mutations

32.6K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
32.6K
Mismatch Repair01:20

Mismatch Repair

4.9K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.9K

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相关实验视频

Updated: Jul 27, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K

新型突变的新型突变

Jie Wang1, Wei-Ting Bu2, Mei-Jia Zhu3

  • 1Department of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University of Traditional Chinese Medicine, Jinan 250014, Shandong Province, China.

World journal of clinical cases
|June 5, 2023
PubMed
概括
此摘要是机器生成的。

这项研究在一个患有遗传性性的中国家庭中发现了一种新的SPG4基因突变. 这些发现扩大了对导致这种神经遗传障碍的SPG4突变的知识.

科学领域:

  • 神经遗传学 神经遗传学
  • 分子生物学分子生物学
  • 临床神经学 临床神经学

背景情况:

  • 遗传性性 (HSP) 包括影响皮质脊髓管的神经遗传性疾病,其特点是下肢性和虚弱.
  • 突变的性残疾类型4 (SPG4) 基因,编码,是HSP的主要原因.
  • 这项研究侧重于一家中国家庭,由于新型SPG4基因突变而出现HSP.
关键词:
腺三酸酶与各种细胞活动相关.自体主导的HSP是自体主导的HSP案例报告案例报告基因检测是一种基因检测.遗传性性残残疾人遗传性性残疾人突变突变是一种突变.这就是SPG4基因.

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
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Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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