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

Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S

I Yuasa1, K Umetsu, U Vogt

  • 1Department of Legal Medicine, Tottori University School of Medicine, Yonago, Japan. yuasai@grape.med.tottori-u.ac.jp

Human Genetics
|March 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

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Clinical genetics·2018
Same author

Characterization of SPATA5-related encephalopathy in early childhood.

Clinical genetics·2016
Same author

Conformationally-locked C-glycosides: tuning aglycone interactions for optimal chaperone behaviour in Gaucher fibroblasts.

Organic & biomolecular chemistry·2015
Same author

Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis.

Chemical communications (Cambridge, England)·2012
Same author

Transcriptional activation of the anchoring protein SAP97 by heat shock factor (HSF)-1 stabilizes K(v) 1.5 channels in HL-1 cells.

British journal of pharmacology·2011
Same author

Multiple subcutaneous hard nodules.

Clinical and experimental dermatology·2010

Investigating human orosomucoid (ORM) gene polymorphism, this study identified specific A-->G transitions in the AGP1 gene. These molecular changes explain the common ORM1*F1, ORM1*F2, and ORM1*S allele variations.

Area of Science:

  • Genetics and Molecular Biology
  • Human Physiology
  • Biochemical Polymorphism

Background:

  • Human orosomucoid (ORM) proteins are encoded by two linked loci, ORM1 and ORM2, with corresponding genes AGP1 and AGP2.
  • Understanding the genetic basis of ORM1 polymorphism is crucial for interpreting its role in human health and disease.
  • Previous cloning of AGP1 and AGP2 provides a foundation for detailed molecular investigation.

Purpose of the Study:

  • To elucidate the molecular basis of human ORM1 gene polymorphism.
  • To identify specific mutations within the AGP1 gene responsible for common ORM1 alleles.
  • To analyze the evolutionary relationships of genes associated with ORM1 variations.

Main Methods:

  • Polymerase chain reaction (PCR) amplification of AGP1 gene exons.

Related Experiment Videos

  • Screening for mutations using single-strand conformation polymorphism (SSCP) analysis.
  • Gene-specific nested PCR and DNA sequencing to confirm identified mutations.

    • Main Results:

    • Three common ORM1 alleles (ORM1*F1, ORM1*F2, ORM1*S) were characterized.
    • The identified variations stem from A-->G nucleotide transitions at specific codons in exons 1 and 5 of the AGP1 gene.
    • ORM1*F1: Gln20, Val156; ORM1*F2: Gln20, Met156; ORM1*S: Arg20, Val156.

    Conclusions:

    • The study precisely defines the molecular underpinnings of major human ORM1 genetic variations.
    • These findings contribute to a deeper understanding of orosomucoid protein diversity.
    • The identified genetic variations and their phylogenesis offer insights into the evolution of the orosomucoid gene family.