Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Gene Conversion02:08

Gene Conversion

10.5K
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...
10.5K
Mutations01:39

Mutations

94.1K
Overview
94.1K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

1.9K
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).
1.9K
Mismatch Repair01:20

Mismatch Repair

6.2K
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...
6.2K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

709
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...
709
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Integrated surveillance resolves Darién paradox of Oropouche virus emergence in Panama's migration corridor.

Research square·2026
Same author

Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.

Biomedicines·2026
Same author

Genomic Profiling of Breast Cancer in an Ecuadorian Cohort Reveals Clinically Relevant Variants and Ancestry-Related Interpretation Challenges.

Cancers·2026
Same author

Source-space EEG alpha activity reveals brain age gaps due to neurodegeneration and disparity.

Communications biology·2026
Same author

The Combined Role of Cognitive, Plasma, Volumetric and EEG Markers Along the Alzheimer's Disease Continuum in Down Syndrome.

Journal of intellectual disability research : JIDR·2026
Same author

Identification of potential biomarkers of fibromyalgia using a proteomic approach in peripheral blood mononuclear cells.

Chronic illness·2026

Related Experiment Video

Updated: Dec 28, 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

26.3K

Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study.

Nádia Pinto1, Vânia Pereira2, Carmen Tomas2

  • 1Institute of Pathology and Molecular Immunology from University of Porto (IPATIMUP), Portugal; Instituto de Investigação e Inovação em Saúde, I3S, Universidade do Porto, Portugal; CMUP, Centro de Matemática da Universidade do Porto, Portugal.

Forensic Science International. Genetics
|February 18, 2020
PubMed
Summary

This study estimated mutation rates using the Investigator Argus X-12 QS kit in 1,612 trios. Paternal mutation rates were 5.2 times higher than maternal, with older fathers showing increased transmission of mutated alleles.

Keywords:
Argus kitMutation ratePopulation databaseX chromosome

More Related Videos

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.3K
Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.9K

Related Experiment Videos

Last Updated: Dec 28, 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

26.3K
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.3K
Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.9K

Area of Science:

  • Forensic Genetics
  • Population Genetics
  • Molecular Biology

Background:

  • The Global FSI (GHEP-ISFG) organized a collaborative study to determine mutation rates for specific genetic markers.
  • Accurate mutation rate estimation is crucial for forensic DNA analysis and kinship testing.

Purpose of the Study:

  • To estimate maternal and paternal mutation rates for markers in the Investigator Argus X-12 QS kit.
  • To analyze population genetic diversity and stratification across several South American and European countries.
  • To investigate the influence of parental age on mutation transmission.

Main Methods:

  • Data from 1,612 father/mother/daughter trios across 16 laboratories were analyzed.
  • Population genetic analyses utilized data from 1,327 unrelated daughters (2,654 haplotypes) from Argentina, Brazil, Ecuador, Portugal, and Spain.
  • Mutation types and parental age effects were assessed.

Main Results:

  • Overall locus-specific mutation rates ranged from 7.5E-04 to 1.1E-02.
  • Paternal mutation rates were 5.2 times higher than maternal rates.
  • Older fathers showed a higher propensity to transmit mutated alleles, unlike mothers.

Conclusions:

  • The study provides crucial mutation rate data for the Investigator Argus X-12 QS kit markers.
  • High genetic diversity and novel alleles were observed, necessitating large databases for frequency estimation.
  • Paternal age is a significant factor influencing mutation rates, impacting forensic and kinship analyses.