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

You might also read

Related Articles

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

Sort by
Same author

CMR Predictors of Liver Cirrhosis by MRI in a National Paediatric Fontan Cohort.

European heart journal. Cardiovascular Imaging·2026
Same author

Impact of coronary artery disease on systolic function in severe aortic stenosis-a multimodality imaging study.

European heart journal. Imaging methods and practice·2026
Same author

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

European journal of human genetics : EJHG·2026
Same author

CMR T1 and T2 mapping and extracellular volume quantification in systolic phase produces superior image quality with less motion artifacts and equal mapping values compared to conventional diastolic mapping.

Magma (New York, N.Y.)·2026
Same author

Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology·2026
Same author

Characteristics, treatment and survival of patients with chondrosarcoma in five European countries: a DARWIN EU® cohort study.

Acta oncologica (Stockholm, Sweden)·2026

Related Experiment Video

Updated: May 1, 2026

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.7K

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing.

Elina Uusitalo1, Anna Hammais, Elina Palonen

  • 1Department of Cell Biology and Anatomy, University of Turku, Turku, Finland.

Acta Dermato-Venereologica
|March 29, 2014
PubMed
Summary

This study demonstrates a new method for analyzing Neurofibromatosis type 1 (NF1) gene mutations using saliva DNA and high-throughput sequencing. This approach successfully identified NF1 mutations in over half of the patient samples tested.

More Related Videos

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.0K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K

Related Experiment Videos

Last Updated: May 1, 2026

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.7K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.0K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomic Medicine

Background:

  • Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene.
  • Traditional mutation analysis methods can be invasive or complex.
  • Advancements in sequencing technology offer opportunities for improved diagnostic approaches.

Purpose of the Study:

  • To develop and validate a non-invasive method for NF1 mutation analysis.
  • To assess the utility of sequence capture and high-throughput sequencing for NF1 gene mutation detection.
  • To evaluate the feasibility of using saliva-derived DNA for genetic testing.

Main Methods:

  • Genomic DNA extraction from patient saliva samples.
  • Targeted enrichment of NF1 exons and flanking intronic regions using SeqCap EZ Choice Library.
  • High-throughput sequencing utilizing the Roche/454 GS Junior system.
  • Analysis of sequencing data for NF1 gene mutations.

Main Results:

  • NF1 mutations were identified in 10 out of 16 patient samples (62.5%).
  • Mean sequencing coverage of targeted regions was high (41x and 74x).
  • The study provides proof of principle for the sequence capture and sequencing methodology in NF1 analysis.

Conclusions:

  • Sequence capture combined with high-throughput sequencing is a viable method for NF1 mutation analysis.
  • Non-invasive sample collection (saliva) is effective for genomic DNA isolation.
  • Limitations include potential undetectability of deep intronic mutations and the need to correlate DNA changes with mRNA/protein levels.