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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

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...
Mutations01:39

Mutations

Overview
Mismatch Repair01:20

Mismatch Repair

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...
Mismatch Repair01:36

Mismatch Repair

Overview
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

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Related Experiment Video

Updated: Jun 22, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

[Gene mutation and genetic counseling].

Mari Matsuo1, Mari Urano, Kayoko Saito

  • 1Institute of Medical Genetics, Tokyo Women's Medical University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|June 11, 2009
PubMed
Summary

Genetic testing offers various diagnostic applications, but requires informed decision-making. Genetic counseling is essential for patients undergoing genetic testing to ensure understanding and support.

Area of Science:

  • Genetics
  • Clinical Diagnostics
  • Medical Technology

Context:

  • Advancements in genetic research technology have expanded the availability of genetic testing in clinical settings.
  • Genetic testing is utilized for diverse applications including diagnosis, pre-symptomatic, prenatal, carrier, and susceptibility assessments.

Purpose:

  • To highlight the critical need for comprehensive genetic knowledge and psychological support in voluntary decision-making for genetic testing.
  • To emphasize the importance of genetic counseling as mandated by guidelines for all genetic testing procedures.

Summary:

  • Genetic testing has evolved significantly, providing numerous clinical applications beyond initial diagnosis.
  • Informed consent and patient understanding are paramount, necessitating thorough genetic counseling.

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Last Updated: Jun 22, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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  • Guidelines from Genetic-Medicine-Related Societies mandate genetic counseling for all genetic testing.

    • Impact:

    • Ensures patients are adequately informed and psychologically prepared for genetic testing results.
    • Promotes ethical and responsible application of genetic testing technologies in healthcare.
    • Upholds the standards for voluntary decision-making in genetic medicine.