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

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

M L Kennerson1, D Zhu, R J Gardner

  • 1Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, New South Wales 2139, Australia. marinak@med.usyd.edu.au

American Journal of Human Genetics
|September 5, 2001
PubMed
Summary

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

Toward an integrated multi-gigahertz ionizing particle diagnostic.

The Review of scientific instruments·2024
Same author

Bromocriptine sensitivity in bromocriptine-induced drug-resistant prolactinomas is restored by inhibiting FGF19/FGFR4/PRL.

Journal of endocrinological investigation·2024
Same author

Author Correction: Intravenous N-acetylcysteine in respiratory disease with abnormal mucus secretion.

European review for medical and pharmacological sciences·2024
Same author

Reply letter to Adeli and Jazi - "Intravenous N-acetylcysteine in respiratory disease with abnormal mucus secretion".

European review for medical and pharmacological sciences·2024
Same author

The Relationship between the Level of Coagulative Function Hypertensive Disorder Complicating Pregnancy.

Nigerian journal of clinical practice·2024
Same author

3D Printed Ion-Responsive Personalized Transdermal Patch.

ACS applied materials & interfaces·2024

Researchers identified a new genetic locus for dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy. This discovery on chromosome 19p12-p13.2 advances understanding of hereditary peripheral nerve disorders.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Hereditary peripheral nerve disorders, collectively known as Charcot-Marie-Tooth (CMT) neuropathy, represent a common group of human genetic diseases.
  • Identifying the genetic basis of CMT subtypes is crucial for diagnosis and potential therapeutic strategies.

Purpose of the Study:

  • To identify a novel genetic locus for a specific form of CMT, termed "dominant intermediate CMT" (DI-CMT).
  • To map the DI-CMT locus using linkage analysis and high-density genetic markers.

Main Methods:

  • Genome-wide screening utilizing 383 microsatellite markers.
  • Linkage analysis to identify chromosomal regions associated with DI-CMT.
  • Haplotype and multipoint linkage analyses to refine the locus location.

Related Experiment Videos

Main Results:

  • Strong linkage identified on the short arm of chromosome 19, specifically near markers D19S221 and D19S226.
  • Haplotype analysis localized the DI-CMT locus to a 16.8-cM region between D19S586 and D19S546.
  • Multipoint linkage analysis pinpointed the most likely location within a 10-cM confidence interval at D19S226, establishing the locus at 19p12-p13.2.

Conclusions:

  • A distinct genetic locus for DI-CMT has been successfully identified and mapped to chromosome 19p12-p13.2.
  • This finding contributes to the genetic landscape of CMT neuropathies and provides a target for further molecular investigation.