Related Experiment Video
Updated: Feb 3, 2026
18:10
Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency
Published on: June 16, 2011
30.1K
ARG5 rs2245214 C/G Polymorphism Frequency in a Romanian Population
F Burada1, D N Florescu2, M G Cucu3
1Department of Medical Genetics, Research Center of Gastroenterology and Hepatology, University of Medicine and Pharmacy of Craiova, Romania.
Current Health Sciences Journal
|October 27, 2018
Summary
This study reports the frequency of the ATG5 rs2245214 C/G polymorphism in Romanian volunteers. The G allele frequency was 0.3, with genotype distributions aligning with Hardy-Weinberg equilibrium.
Area of Science:
- Genetics and Molecular Biology
- Population Genetics
Background:
- Autophagy is a crucial cellular process.
- The ATG5 gene plays a key role in autophagy.
- Genetic variations in ATG5 may influence cellular functions and disease susceptibility.
Purpose of the Study:
- To determine the frequency of the ATG5 rs2245214 C/G polymorphism in a Romanian cohort.
- To provide data on this polymorphism in an Eastern European population.
- To establish a baseline for future genetic association studies.
Main Methods:
- DNA extraction from peripheral blood of 105 Romanian volunteers.
- Genotyping of the ATG5 rs2245214 C/G polymorphism using Real-Time PCR and TaqMan assay.
- Assessment of Hardy-Weinberg equilibrium using the Chi-squared test.
Main Results:
- Genotype frequencies were CC (50.48%), CG (38.10%), and GG (11.42%).
- The G risk allele frequency was 0.3.
- Genotype frequencies were in Hardy-Weinberg equilibrium (χ² = 1.07; p = 0.3).
Conclusions:
- This is the first report on the ATG5 rs2245214 polymorphism frequency in a Romanian population.
- Observed genotype distributions slightly differ from other Caucasian populations.
- Further large-scale studies across diverse ethnic groups are recommended.
Related Concept Videos
01:25What is Population Genetics?
64.7K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.7K
01:21Frequency-dependent Selection
24.1K
When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
24.1K
02:04Conservation of Small Populations
17.3K
Small population sizes put a species at extreme risk of extinction due to a lack of variation, and a consequent decrease in adaptability. This weakens the chances of survival under pressures such as climate change, competition from other species, or new diseases. Large populations are more likely to survive pressures such as these, as such populations are more likely to harbor individuals that have genetic variants that are adaptive under new stresses. Small populations are much less...
17.3K
00:57Population Growth
28.6K
Population size is dynamic, increasing with birth rates and immigration, and decreasing with death rates and emigration. In ideal conditions with unlimited resources, populations can increase exponentially, which plots as a J-shaped growth rate curve of population size against time. This type of curve is characteristic of newly-introduced invasive species, or populations that have suffered catastrophic declines and are rebounding.
28.6K
00:30What are Populations and Communities?
37.8K
Overview
37.8K
01:05Single Nucleotide Polymorphisms-SNPs
18.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.4K