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Related Concept Videos

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Pedigree Analysis01:35

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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Related Experiment Video

Updated: Apr 25, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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[Genetic analysis].

Eriko Morishita

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |August 29, 2014
    PubMed
    Summary

    Deficiencies in natural anticoagulant proteins like antithrombin, protein C, and protein S increase venous thromboembolism (VTE) risk in Japanese individuals. Genetic testing is crucial for diagnosing these inherited conditions and managing thrombotic risk.

    Area of Science:

    • Medical Genetics
    • Hematology
    • Molecular Biology

    Context:

    • Inherited deficiencies of natural anticoagulant proteins (antithrombin, protein C, protein S) are significant risk factors for venous thromboembolism (VTE), particularly in Japanese populations.
    • Accurate identification of these deficiencies is vital for effective VTE prevention and treatment strategies.
    • Genetic analysis provides definitive diagnosis for inherited deficiencies, aiding in risk assessment for affected individuals and their families.

    Purpose:

    • To highlight the importance of identifying deficiencies in natural anticoagulant proteins for VTE risk management.
    • To discuss the role of genetic analysis in diagnosing inherited antithrombin, protein C, and protein S deficiencies.
    • To present typical detection rates for mutations associated with these deficiencies.

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    Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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    Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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    An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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    Published on: November 3, 2010

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    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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    Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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    Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

    Published on: August 21, 2016

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    Summary:

    • Deficiencies in antithrombin (AT), protein C (PC), and protein S (PS) are key risk factors for VTE in Japanese individuals.
    • Genetic analysis, including DNA sequencing and MLPA, is the standard for diagnosing inherited deficiencies.
    • Mutation detection rates are high for AT (85%) and PC (70%), but lower for PS deficiency (around 40%).

    Impact:

    • Facilitates precise diagnosis and management of inherited thrombophilia.
    • Enables proactive VTE risk assessment for individuals and families.
    • Informs clinical guidelines for VTE prevention and treatment in at-risk populations.