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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Venous Return01:04

Venous Return

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The circulatory system plays a crucial role in ensuring the optimal functioning of the human body. One of its critical components is venous return - the process that completes the blood circulation cycle. This article will delve into the concept of venous return, how it works, and its significance to our health.
What is Venous Return?
Venous return refers to the rate at which blood flows back to the heart from the body's peripheral veins. It's an integral part of the circulatory system...
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Relative Risk01:12

Relative Risk

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Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Related Experiment Video

Updated: Feb 5, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Published on: August 25, 2014

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THROMBOTIC RISK EVALUATION OF TWO METHYLENETETRAHYDROFOLATE REDUCTASE MUTATIONS C677t AND A1298c IN VENOUS

Renata Kundid, Monika Kolundžić, Ivana Babić

    Acta Clinica Croatica
    |February 4, 2026
    PubMed
    Summary

    Methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C are not linked to an increased risk of venous thromboembolism (VTE) in Croatian patients. This study found no significant association between these MTHFR gene variants and VTE development.

    Keywords:
    AllelesGenotypeMTHFR (methylenetetrahydrofolate reductase)Venous thromboembolism

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    Area of Science:

    • Genetics
    • Hematology
    • Molecular Biology

    Background:

    • Methylenetetrahydrofolate reductase (MTHFR) gene mutations, specifically C677T and A1298C, are implicated in hypercoagulability when combined with deficiencies in folate and vitamin B12.
    • Understanding the thrombotic risk associated with MTHFR mutations is crucial for managing patients with venous thromboembolism (VTE).

    Purpose of the Study:

    • To evaluate the thrombotic risk associated with MTHFR C677T and A1298C mutations, both individually and in combination, in patients diagnosed with venous thromboembolism (VTE).

    Main Methods:

    • A case-control study was conducted with 262 VTE patients and 101 healthy controls.
    • Real-time polymerase chain reaction (PCR) was used to determine the allelic distribution of MTHFR C677T/A1298C mutations.
    • Statistical analysis included the chi-squared (χ²) test, comparison of proportions, 95% confidence intervals (95% CI), and a significance level of p=0.05.

    Main Results:

    • No statistically significant differences were observed in the frequencies of MTHFR C677T genotypes between VTE patients and controls (p=0.676; OR=1.297; 95% CI 0.649-2.592).
    • Similarly, no significant differences were found for the A1298C mutation (p=0.872; OR=0.894; 95% CI 0.564-1.419).
    • Allele distributions for both MTHFR mutations and their combined frequencies did not show significant associations with VTE risk in the studied population.

    Conclusions:

    • MTHFR C677T and A1298C mutations, individually or combined, do not appear to be significant risk factors for the development of venous thromboembolism (VTE) in the Croatian patient cohort.
    • The study suggests that genetic screening for these specific MTHFR mutations may not be warranted for VTE risk assessment in this population.