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

S Yu Chernushyn, L A Livshits

    Tsitologiia I Genetika
    |November 28, 2018
    PubMed
    Summary
    This summary is machine-generated.

    The most common congenital adrenal hyperplasia mutation in Ukrainian patients is CYP21A2 gene deletion/conversion. This study analyzes various CYP21A2 mutations and their link to clinical phenotypes in this population.

    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

    Analysis of Relative Average Length of Telomeres in Leukocytes of Women with COVID-19.

    Cytology and genetics·2022
    Same author

    Relationship between the Prevalence of ACE1 I/D Polymorphism Genotype II and Covid-19 Morbidity, Mortality in Ukraine and in Some Europe Countries.

    Cytology and genetics·2021
    Same author

    <i>IFNL4</i> polymorphism as a predictor of chronic hepatitis C treatment efficiency in Ukrainian patients.

    Cytology and genetics·2020
    Same author

    ZNF527 GENE rs386809049 ANALYSIS IN POPULATION OF UKRAINE.

    TSitologiia i genetika·2015
    Same author

    [Spinal muscular atrophy carrier frequency in Ukraine].

    Genetika·2014
    Same author

    IL1beta, IL6 and IL8 gene polymorphisms involvement in recurrent corneal erosion in patients with hereditary stromal corneal dystrophies.

    TSitologiia i genetika·2013
    Same journal

    TSitologiia i genetika·2018
    Same journal

    TSitologiia i genetika·2018
    Same journal

    TSitologiia i genetika·2018
    Same journal

    TSitologiia i genetika·2018
    Same journal

    TSitologiia i genetika·2018
    Same journal

    TSitologiia i genetika·2018
    See all related articles

    Area of Science:

    • Genetics
    • Endocrinology
    • Molecular Biology

    Background:

    • Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
    • Mutations in the CYP21A2 gene are the primary cause of the most common form of CAH, 21-hydroxylase deficiency.
    • Understanding mutation distribution is crucial for genetic counseling and diagnosis.

    Purpose of the Study:

    • To investigate the distribution of specific CYP21A2 gene mutations in Ukrainian patients with CAH.
    • To analyze the association between different genotypes and clinical phenotypes in the studied cohort.
    • To compare mutation patterns with global populations.

    Main Methods:

    • Genetic analysis of CYP21A2 gene mutations.
    • Clinical phenotyping of congenital adrenal hyperplasia patients.

    Related Experiment Videos

  • Statistical analysis of mutation frequencies and genotype-phenotype correlations.

    • Main Results:

    • The CYP21A2 gene deletion/conversion was identified as the most frequent mutation among Ukrainian CAH patients (n=27).
    • Specific mutations including c.290-13C>A/G, E110Vfs, I172N, and a cluster (I236N, V237E, M239K, V281L, Q318X, R356W) were observed.
    • The study provides data on mutation patterns within the Ukrainian population.

    Conclusions:

    • CYP21A2 gene deletion/conversion is the predominant mutation causing CAH in Ukrainian patients.
    • Genotype-phenotype associations warrant further investigation in diverse populations.
    • This research contributes to understanding the genetic landscape of CAH in Eastern Europe.