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

Does alpha-1-antitrypsin P1 null phenotype exist?

J P Martin, R Sesboue, R Charlionet

    Humangenetik
    |November 6, 1975
    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

    Characterization of Spanish grapevine cultivar diversity using sequence-tagged microsatellite site markers.

    Genome·2003
    Same author

    Chloroplast and nuclear DNA studies in a few members of the Brassica oleracea L. group using PCR-RFLP and ISSR-PCR markers: a population genetic analysis.

    TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2003
    Same author

    Granulomatous ulcerative colitis: a re-appraisal of the mucosal granuloma in the distinction of Crohn's disease from ulcerative colitis.

    Histopathology·2002
    Same author

    A multivariate statistical analysis to follow the course of disease after infection of cats with different strains of the feline immunodeficiency virus (FIV).

    Journal of virological methods·2002
    Same author

    Measurement of B --> K*gamma branching fractions and charge asymmetries.

    Physical review letters·2002
    Same author

    Referral patterns to a district general hospital gastroenterology outpatient clinic: implications for the 'two-week target'.

    International journal of clinical practice·2002
    Same journal

    DNA replication patterns of human C group chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique.

    Humangenetik·1975
    Same journal

    Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

    Humangenetik·1975
    Same journal

    Climate associated variations in the human serum albumin level.

    Humangenetik·1975
    Same journal

    A technique for in situ karyotyping of primary amniotic fluid cell cultures.

    Humangenetik·1975
    Same journal

    Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

    Humangenetik·1975
    Same journal

    Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

    Humangenetik·1975
    See all related articles

    A rare Pi null alpha-1-antitrypsin (AA) deficiency case shows extremely low serum AA levels. Unlike other variants, this deficiency lacks typical inclusion bodies, suggesting a unique inherited anomaly.

    Area of Science:

    • Genetics
    • Biochemistry
    • Pulmonology

    Background:

    • Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder.
    • Null phenotypes (Pi null) represent a severe form of AAT deficiency.
    • Understanding AAT variants is crucial for diagnosis and management.

    Purpose of the Study:

    • To describe a second documented case of Pi null alpha-1-antitrypsin (AA) deficiency.
    • To characterize the biochemical and phenotypic profile of this rare deficiency.
    • To investigate the genetic and molecular basis of the observed AAT anomaly.

    Main Methods:

    • Serum analysis for alpha-1-antitrypsin (AA) quantification.
    • Phenotyping using radiolabeled specific antibodies.
    • Antigen-antibody crossed electrophoresis.

    Related Experiment Videos

  • Histological examination of tissues for inclusion bodies (Periodic acid-Schiff staining).

    • Main Results:

    • The subject presented with extremely low serum AA levels (5 mug/mL).
    • The Pi phenotype resembled Pi M but was approximately 500 times lower than normal.
    • Absence of Periodic acid-Schiff positive inclusion bodies in subject tissues, differentiating it from common deficient variants (ZZ, MZ).

    Conclusions:

    • This case represents a unique Pi null alpha-1-antitrypsin (AA) deficiency.
    • The absence of inclusion bodies suggests a distinct molecular mechanism compared to other AAT deficiencies.
    • The findings support the hypothesis of a hereditarily transmitted deficient anomaly with a "normal" electrophoretic pattern.