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 Experiment Videos

Mapping of DFN2 to Xq22

J Tyson1, S Bellman, V Newton

  • 1Unit of Clinical Genetics, Institute of Child Health, London, UK.

Human Molecular Genetics
|December 1, 1996
PubMed
Summary

Researchers mapped a gene for non-syndromic X-linked deafness (DFN2) to Xq22. This rare genetic hearing loss affects families, with carriers experiencing high-frequency hearing impairment.

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

Physiotherapists' delivery of cognitive functional therapy in clinical practice: perceived facilitators and barriers from a socioecological perspective.

Disability and rehabilitation·2025
Same author

"Every patient teaches you something new": experiences of physiotherapists delivering cognitive functional therapy for chronic, disabling low back pain in a randomised controlled trial.

Disability and rehabilitation·2024
Same author

A Cost-Utility Analysis of Robotic Arm-Assisted Total Hip Arthroplasty: Using Robotic Data from the Private Sector and Manual Data from the National Health Service.

Advances in orthopedics·2022
Same author

Imaging organelle membranes in live cells at the nanoscale with lipid-based fluorescent probes.

Current opinion in chemical biology·2021
Same author

A systematic scoping review of early interventions for parents of deaf infants.

BMC pediatrics·2021
Same author

V3-Loop genotypes do not predict maraviroc susceptibility of CCR5-tropic virus or clinical response through week 48 in HIV-1-infected, treatment-experienced persons receiving optimized background regimens.

Antiviral chemistry & chemotherapy·2021

Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Non-syndromic X-linked deafness is a rare, heterogeneous genetic cause of hearing loss.
  • Five loci are known, but only two are mapped; DFN2 remains unmapped.
  • DFN2 is associated with congenital profound sensorineural hearing loss.

Purpose of the Study:

  • To map the DFN2 locus for congenital profound sensorineural hearing loss.
  • To identify the genetic basis of hearing loss in a four-generation family.

Main Methods:

  • Genetic linkage analysis using polymorphic microsatellite markers.
  • Analysis of a four-generation family exhibiting X-linked hearing loss.
  • Lod score calculation and flanking marker analysis.

Main Results:

  • The DFN2 locus was successfully mapped to chromosome region Xq22.
  • A maximum lod score of 2.91 was achieved with a COL4A5 dinucleotide repeat marker.
  • Recombinations were observed with flanking markers DXS990 and DXS1001.

Conclusions:

  • The study successfully mapped the DFN2 gene to Xq22.
  • This finding contributes to understanding the genetic heterogeneity of X-linked deafness.
  • Identifies COL4A5 as a potential candidate gene for this form of hearing loss.

Related Experiment Videos