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

Alpha-1-antitrypsin subtypes in Polish newborns

A Kowalska1, J Rujner, N V Titenko-Holland

  • 1Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.

Human Heredity
|November 1, 1995
PubMed
Summary

This study analyzed Alpha-1-antitrypsin (AAT) phenotypes in 741 Polish newborns using isoelectric focusing. Allele frequencies were determined and compared with other European populations, providing insights into AAT genetic diversity.

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

Anthropogenic radionuclides in Antarctic biota - dosimetrical considerations.

Journal of environmental radioactivity·2020
Same author

18β-Glycyrrhetinic acid: its core biological properties and dermatological applications.

International journal of cosmetic science·2019
Same author

Measurement of <sup>131</sup>I activity in air indoor Polish nuclear medical hospital as a tool for an internal dose assessment.

Radiation and environmental biophysics·2017
Same author

Survival of 86,690 patients with thyroid cancer: A population-based study in 29 European countries from EUROCARE-5.

European journal of cancer (Oxford, England : 1990)·2017
Same author

Measurement of <sup>131</sup>I activity in thyroid of nuclear medical staff and internal dose assessment in a Polish nuclear medical hospital.

Radiation and environmental biophysics·2017
Same author

Effectiveness of training programmes used in two stables of thoroughbred race horses.

Polish journal of veterinary sciences·2015

Area of Science:

  • Genetics
  • Biochemistry
  • Population Studies

Background:

  • Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that can lead to lung and liver disease.
  • Understanding the distribution of AAT phenotypes is crucial for assessing genetic predisposition and informing public health strategies.
  • Previous studies have established AAT allele frequencies in various European populations, but data for Poland were limited.

Purpose of the Study:

  • To determine the frequencies of Alpha-1-antitrypsin (AAT) phenotypes in a cohort of 741 Polish newborns.
  • To compare the observed AAT allele frequencies in Poland with those reported in other European populations.
  • To contribute to the understanding of AAT genetic variation across Europe.

Main Methods:

  • Umbilical cord serum samples from 741 Polish newborns were collected.

Related Experiment Videos

  • Isoelectric focusing (IEF) was employed to analyze the Alpha-1-antitrypsin (AAT) phenotypes.
  • Allele frequencies were calculated based on the IEF results.

    • Main Results:

    • The most frequent AAT allele observed was PI*M1 (0.7199), followed by PI*M2 (0.1613) and PI*M3 (0.0965).
    • Less common alleles included PI*S (0.0094), PI*Z (0.0067), and a group of rare variants (PI*Var(F,I,L)) (0.0060).
    • The determined allele frequencies were compared with existing data from other European populations.

    Conclusions:

    • The study established the genetic profile of Alpha-1-antitrypsin (AAT) in a representative sample of the Polish newborn population.
    • The findings suggest a distinct pattern of AAT allele frequencies in Poland compared to some other European regions.
    • This data is valuable for epidemiological studies and clinical considerations related to AAT deficiency in Poland and Europe.