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

Two new Gaucher disease mutations

E Beutler1, T Gelbart

  • 1Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037.

Human Genetics
|February 1, 1994
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

1342C mutation in Gaucher's disease.

Lancet (London, England)·1995
Same author

Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.

American journal of hematology·1995
Same author

Gaucher disease.

Medicine·1995
Same author

Treatment regimens in Gaucher's disease.

Lancet (London, England)·1995
Same author

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

The Journal of clinical investigation·1995
Same author

Erythrocyte fragility and chronic intermittent pigmenturia in a dog.

Journal of the American Veterinary Medical Association·1995
Same journal

AI in variant analysis: fast track to genetic diagnoses.

Human genetics·2026
Same journal

Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder.

Human genetics·2026
Same journal

Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.

Human genetics·2026
Same journal

ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway.

Human genetics·2026
Same journal

Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.

Human genetics·2026
Same journal

Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification.

Human genetics·2026
See all related articles

Researchers identified two new mutations in the glucocerebrosidase gene linked to severe Gaucher disease. These mutations were found by screening DNA using TaqI enzyme digestion, aiding in genetic diagnosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Gaucher disease is a lysosomal storage disorder caused by mutations in the glucocerebrosidase gene.
  • Genetic mutations can alter enzyme function and disease phenotype.
  • Specific mutations can be identified through molecular screening techniques.

Purpose of the Study:

  • To identify novel mutations in the glucocerebrosidase gene associated with Gaucher disease.
  • To evaluate the utility of TaqI restriction enzyme digestion for mutation screening.
  • To correlate identified mutations with Gaucher disease subtypes.

Main Methods:

  • Polymerase chain reaction (PCR) amplification of glucocerebrosidase gene fragments.
  • Restriction fragment length polymorphism (RFLP) analysis using TaqI enzyme digestion.

Related Experiment Videos

  • DNA sequencing to confirm identified mutations.

    • Main Results:

    • Two novel mutations in the glucocerebrosidase gene were identified in Gaucher disease patients.
    • A CT substitution at cDNA nucleotide 1192 (Gaucher disease type 1) and a GA mutation at nt 1312 (Gaucher disease type 2) were found.
    • Both identified mutations were functionally severe, associated with acute neuronopathic Gaucher disease (type 2).

    Conclusions:

    • TaqI restriction site analysis is a viable method for screening specific glucocerebrosidase gene mutations.
    • Novel mutations in the glucocerebrosidase gene contribute to the genetic heterogeneity of Gaucher disease.
    • Genetic identification of severe mutations aids in understanding disease pathogenesis and prognosis.