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Related Concept Videos

Mismatch Repair01:36

Mismatch Repair

Overview
Mutations01:39

Mutations

Overview
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

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Related Experiment Video

Updated: Jul 15, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Mutation testing in Treacher Collins Syndrome.

P E Ellis1, M Dawson, M J Dixon

  • 1Orthodontic Department, Charles Clifford Dental Hospital, Sheffield, UK. pamela@ellisteeth.demon.co.uk

Journal of Orthodontics
|November 22, 2002
PubMed
Summary

Researchers screened 97 Treacher Collins syndrome (TCS) patients for TCOF1 gene mutations, identifying 36 new mutations. This aids in postnatal diagnosis, genetic counseling, and prenatal diagnosis for TCS.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Treacher Collins syndrome (TCS) is a rare genetic disorder affecting craniofacial development.
  • Mutations in the TCOF1 gene are the primary cause of TCS.
  • Comprehensive mutation screening is crucial for understanding disease mechanisms and genetic counseling.

Purpose of the Study:

  • To screen a cohort of 97 individuals with a clinical diagnosis of Treacher Collins syndrome for mutations in the TCOF1 gene.
  • To identify and characterize novel mutations within the TCOF1 gene associated with TCS.
  • To expand the known spectrum of TCOF1 mutations and their contribution to TCS.

Main Methods:

  • Genetic screening of 97 subjects with clinical TCS diagnoses.
  • Utilized single-strand conformation polymorphism (SSCP) analysis to detect potential TCOF1 mutations.

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  • Employed sequence analysis to precisely determine the type and location of identified mutations.

    • Main Results:

    • Identified 36 new TCS-specific mutations in the TCOF1 gene.
    • Detailed mutation types include 27 deletions, 6 point mutations, 2 splice junction mutations, and 1 insertion/deletion.
    • The total number of reported TCOF1 mutations associated with TCS has increased to 105.

    Conclusions:

    • Detection of TCOF1 mutations is vital for accurate postnatal diagnosis of Treacher Collins syndrome.
    • Identified mutations are essential for providing genetic counseling to affected families.
    • Knowledge of family-specific mutations enables precise prenatal diagnosis, offering informed reproductive choices.