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

A novel mutation causing complete deficiency of thyroxine binding globulin

Y Ueta1, Y Mitani, A Yoshida

  • 1First Department of Internal Medicine, Tottori University, Faculty of Medicine, Yonago, Japan..

Clinical Endocrinology
|July 1, 1997
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

The phorbol 12-myristate 13-acetate (PMA)-induced oxidative burst in rat peritoneal neutrophils is increased by a 0.1 mT (60 Hz) magnetic field.

FEBS letters·1995
Same author

Adenosines scavenged hydroxyl radicals and prevented posttraumatic epilepsy.

Free radical biology & medicine·1995
Same author

Myofibroma of the mandible. Clinicopathologic study and review of the literature.

Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics·1995
Same author

A transcription terminator signal necessary for plasmid ColIb-P9 replication.

Molecular microbiology·1995
Same author

[Pharmacokinetic and clinical studies of S-1108 in the pediatric field. Pediatric Study Group of S-1108].

The Japanese journal of antibiotics·1995
Same author

The complete amino acid sequence of lectin-C from the roots of pokeweed (Phytolacca americana).

Bioscience, biotechnology, and biochemistry·1995

Researchers identified a new thyroxine binding globulin (TBG) gene mutation in a Japanese family, causing complete TBG deficiency. This novel mutation leads to a premature stop codon and undetectable TBG levels.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Thyroxine binding globulin (TBG) is crucial for thyroxine transport.
  • Three distinct mutations causing complete TBG deficiency (TBG-CD) have been previously identified.
  • Existing TBG-CD mutations include TBG-CD5 (French-Canadian), TBG-CD6 (English), and TBG-CDJ (Japanese).

Observation:

  • A novel TBG-CD mutation was identified in a Japanese family.
  • The mutation involves a single nucleotide substitution (adenine for cytosine and thymine) in exon 1 of the TBG gene.
  • This substitution results in a frame shift and an early stop codon at codon 51.

Findings:

  • The novel mutation was confirmed in the index case and their daughters using primer-directed mutagenesis and allele-specific amplification.

Related Experiment Videos

  • Exons 2, 3, and 4 of the TBG gene were found to be normal in the index case.
  • The mutation was associated with undetectable serum TBG concentrations.

    • Implications:

    • This discovery expands the known spectrum of TBG gene mutations.
    • Understanding this mutation aids in diagnosing and managing TBG deficiency.
    • Further research may elucidate the prevalence and clinical significance of this specific mutation.