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Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Related Experiment Video

Updated: Jul 8, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct

P Yenchitsomanus, P Thanootarakul, V Akkarapatumwong

    Haemophilia : the Official Journal of the World Federation of Hemophilia
    |June 16, 2001
    PubMed
    Summary

    A novel splicing defect in factor VIII was found in a severe hemophilia A patient, causing a 201-nucleotide deletion. An allele-specific amplification method was developed for direct mutation detection.

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    Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
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    Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

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    Last Updated: Jul 8, 2026

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
    10:41

    Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

    Published on: March 29, 2017

    Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
    10:57

    Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

    Published on: August 14, 2018

    Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
    07:17

    Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

    Published on: August 23, 2024

    Area of Science:

    • Genetics
    • Molecular Biology
    • Hematology

    Background:

    • Hemophilia A is a severe inherited bleeding disorder caused by mutations in the factor VIII gene.
    • Splicing defects can lead to altered protein function and disease phenotypes.

    Observation:

    • A patient with severe hemophilia A presented with a specific genetic mutation.
    • The mutation IVS15 + 1G > T was identified, affecting the factor VIII transcript.

    Findings:

    • The mutation inactivated a donor splice site and activated a cryptic acceptor splice site in exon 16.
    • This resulted in a 201-nucleotide deletion in the factor VIII transcript.
    • An allele-specific amplification (ASA) method was successfully developed for direct mutation detection.

    Implications:

    • This finding aids in understanding the molecular basis of hemophilia A.
    • The developed ASA method offers a direct diagnostic tool for this specific mutation.
    • Accurate genetic diagnosis is crucial for effective patient management and genetic counseling.