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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral 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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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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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 in Microorganisms01:18

Mutations in Microorganisms

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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

Point and Frameshift Mutations

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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: Feb 3, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Detection and Functional Analysis of TP53 Mutations in CLL.

Sarka Pavlova1,2,3, Jana Smardova4, Nikola Tom3

  • 1Department of Internal Medicine, Hematology and Oncology, University Hospital Brno, Brno, Czech Republic.

Methods in Molecular Biology (Clifton, N.J.)
|October 24, 2018
PubMed
Summary

TP53 gene mutations in chronic lymphocytic leukemia (CLL) impact prognosis. Two research methods, functional analysis of separated alleles in yeast (FASAY) and next-generation sequencing, effectively identify these critical TP53 variants.

Keywords:
FASAYLow-burden mutationsNext-generation sequencingSubclonal mutationsTP53

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Chronic lymphocytic leukemia (CLL) is characterized by TP53 gene defects, which are associated with a poor prognosis.
  • Accurate identification of TP53 mutations is crucial for understanding CLL progression and treatment resistance.

Purpose of the Study:

  • To present and evaluate two distinct research methodologies for identifying TP53 mutations in CLL patients.
  • To offer reliable tools for the detection of TP53 variants, aiding in prognostic assessment.

Main Methods:

  • Functional analysis of separated alleles in yeast (FASAY): A flexible method providing immediate functional insights into identified TP53 mutations.
  • Amplicon-based next-generation sequencing: A high-throughput approach for sensitive detection of subclonal TP53 variants with <1% sensitivity.

Main Results:

  • Both FASAY and amplicon-based next-generation sequencing are effective in identifying TP53 mutations in CLL.
  • FASAY offers adaptability and functional data, while next-generation sequencing provides high throughput and sensitive detection of low-frequency variants.

Conclusions:

  • These methodologies provide valuable research tools for the comprehensive analysis of TP53 alterations in CLL.
  • Improved detection of TP53 mutations can enhance prognostic accuracy and guide future therapeutic strategies in CLL research.