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

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.2K
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...
1.2K
Mutations in Microorganisms01:18

Mutations in Microorganisms

751
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,...
751
Mutations01:39

Mutations

94.6K
Overview
94.6K
Mutations01:35

Mutations

44.6K
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...
44.6K
Viral Mutations00:36

Viral Mutations

39.9K
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...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.5K
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).
64.5K

You might also read

Related Articles

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

Sort by
Same author

[Perinatale thuisbehandeling; ggz in verbondenheid met het gezin].

Tijdschrift voor psychiatrie·2024
Same author

EUS-guided transrectal drainage of pelvic abscesses: a retrospective analysis of 17 patients.

Acta gastro-enterologica Belgica·2023
Same author

[Sustainability in Flemish and Dutch mental health care].

Tijdschrift voor psychiatrie·2023
Same author

Systematic review of the registered clinical trials for oncological hyperthermia treatment.

International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group·2022
Same author

Prevalence and characteristics of systemic conditions in patients undergoing orthognathic surgery: a retrospective study.

International journal of oral and maxillofacial surgery·2022
Same author

Preventing taxane-related peripheral neuropathy, pain and nail toxicity: a prospective self-controlled trial comparing hilotherapy with frozen gloves in early breast cancer.

Breast cancer research and treatment·2022

Related Experiment Videos

NRAS Mutations in Noonan Syndrome.

E Denayer1, H Peeters, L Sevenants

  • 1Departments of Human Genetics Catholic University of Leuven, Leuven, Belgium.

Molecular Syndromology
|August 3, 2012
PubMed
Summary

Genetic testing identified novel NRAS mutations in individuals with Noonan syndrome, confirming NRAS as a causative gene. This finding expands the genetic landscape of Noonan syndrome, aiding in diagnosis.

Related Experiment Videos

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Noonan syndrome is a genetic disorder with diverse causes, including mutations in PTPN11, SOS1, RAF1, KRAS, NRAS, and SHOC2.
  • Previous research has identified mutations in several genes associated with Noonan syndrome, but the contribution of NRAS and SHOC2 requires further investigation.

Purpose of the Study:

  • To investigate the role of NRAS and SHOC2 genes in individuals with Noonan syndrome who tested negative for mutations in other known causative genes.
  • To identify novel mutations and characterize the phenotypic variability associated with NRAS mutations in Noonan syndrome.

Main Methods:

  • Mutation analysis was performed on the NRAS and SHOC2 genes in 115 individuals.
  • Individuals included in the study were previously found to be negative for mutations in PTPN11, SOS1, RAF1, and KRAS.

Main Results:

  • No mutations were detected in the SHOC2 gene.
  • Three NRAS mutations were identified in three probands, with one mutation being novel.
  • The study observed variable phenotypes among individuals with germline NRAS mutations.

Conclusions:

  • Germline NRAS mutations are a rare but confirmed cause of Noonan syndrome.
  • The genetic testing for NRAS mutations should be considered in the diagnostic workup of Noonan syndrome patients negative for mutations in other common genes.
  • Further research is needed to fully elucidate the spectrum of NRAS mutations and their associated phenotypes in Noonan syndrome.