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Mutations01:39

Mutations

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Mutations01:35

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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
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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...
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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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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,...
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Point and Frameshift Mutations01:30

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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...
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Related Experiment Video

Updated: Jan 23, 2026

Inducement and Evaluation of a Murine Model of Experimental Myopia
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TNFRSF21 mutations cause high myopia.

Hong Pan1,2,3, Shijing Wu1, Jing Wang4

  • 1Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Journal of Medical Genetics
|June 14, 2019
PubMed
Summary
This summary is machine-generated.

Genetic variants in TNFRSF21 cause high myopia (HM) in Chinese families. This study identified novel TNFRSF21 variants linked to non-syndromic HM, highlighting its role in ocular complications.

Keywords:
TNFRSF21high myopiawhole exome sequencing

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • High myopia (HM) is a leading cause of vision impairment globally.
  • Genetic factors are crucial in the development of HM.
  • Pathological ocular complications are associated with HM.

Purpose of the Study:

  • To identify the candidate gene responsible for non-syndromic HM in a large Chinese family.
  • To investigate the genetic basis of high myopia.

Main Methods:

  • Whole exome sequencing (WES) was performed on affected family members.
  • Sanger sequencing confirmed variant cosegregation with the disease.
  • Analysis of 220 unrelated HM patients and functional assays (immunofluorescence, apoptosis studies) were conducted.

Main Results:

  • A novel TNFRSF21 variant (P146A) was identified in the family.
  • Three additional rare TNFRSF21 variants were found in unrelated HM patients.
  • The P146A variant significantly increased apoptosis in retinal pigment epithelial cells.

Conclusions:

  • TNFRSF21 variants are a cause of non-syndromic high myopia in the Chinese population.
  • TNFRSF21 plays a role in the pathogenesis of HM.