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

Linkage analysis in X-linked ocular albinism.

R E Schnur1, R L Nussbaum, L Anson-Cartwright

  • 1Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia.

Genomics
|April 1, 1991
PubMed
Summary
This summary is machine-generated.

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

Employing the theory of planned behaviour to design an e-cigarette education resource for use in secondary schools.

BMC public health·2022
Same author

Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.

Digestive diseases and sciences·2022
Same author

Robotic retroperitoneal lymph node dissection for primary and post-chemotherapy testis cancer.

Journal of robotic surgery·2021
Same author

Corrigendum to <Compensatory strategy between trunk-hip kinematics and reaction time following slip perturbation between subjects with and without chronic low back pain> < [Journal of Electromyography and Kinesiology 2018;43:68-74] >.

Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology·2020
Same author

Partial orchiectomy: The Princess Margaret cancer centre experience.

Urologic oncology·2020
Same author

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica·2019

Researchers studied X-linked Nettleship-Falls ocular albinism (OA1) linkage to Xp22.3 markers. They found OA1 tightly linked to DXS143, steroid sulfatase (STS), and DXS452, aiding genetic counseling and disease mapping.

Area of Science:

  • Human Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Nettleship-Falls ocular albinism (OA1) is an X-linked genetic disorder affecting vision.
  • Understanding the precise genetic locus of OA1 is crucial for diagnosis and genetic counseling.

Purpose of the Study:

  • To investigate the genetic linkage of X-linked OA1 to specific loci on the X chromosome.
  • To refine the localization of the OA1 gene within the Xp22.3 region.

Main Methods:

  • Utilized restriction fragment length polymorphisms (RFLPs) at 12 loci across five families.
  • Analyzed cosegregation of OA1 with a deletion of steroid sulfatase (STS) in one family.
  • Performed individual recombination and multipoint linkage analyses.

Related Experiment Videos

Main Results:

  • Demonstrated tight linkage between OA1 and Xp22.3 loci DXS143, STS, and DXS452.
  • Identified DXS452 as a highly informative marker for family studies, with all females being heterozygous.
  • Suggested OA1 maps between DXS143 and DXS85, within the Xp22.3-Xp22.2 region.

Conclusions:

  • The study provides strong evidence for the localization of the OA1 gene to the Xp22.3-Xp22.2 chromosomal region.
  • The identified markers, particularly DXS452, are valuable tools for genetic linkage studies and counseling for OA1.
  • Further refinement of OA1's position aids in understanding its molecular basis and developing potential therapeutic strategies.