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Related Concept Videos

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
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mutations01:35

Mutations

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...
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
Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...

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Related Experiment Video

Updated: May 24, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Trinucleotide instability: a repeating theme in human inherited disorders

J F Gusella1, M E MacDonald

  • 1Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown 02129, USA.

Annual Review of Medicine
|January 1, 1996
PubMed
Summary

A novel mutation mechanism involving unstable trinucleotide repeat expansion explains complex genetic inheritance patterns in various disorders. This discovery aids predictive testing and understanding disease mechanisms for potential treatments.

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Last Updated: May 24, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Published on: September 16, 2019

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Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
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Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Certain genetic disorders exhibit unusual inheritance patterns.
  • A new mutation mechanism involving nucleotide triplets has been identified.

Purpose of the Study:

  • To explain perplexing genetic inheritance through a novel mutation mechanism.
  • To highlight the role of unstable trinucleotide repeat expansion.

Main Methods:

  • Analysis of genetic inheritance in disorders with paradoxical features.
  • Identification and characterization of unstable trinucleotide repeat segments.

Main Results:

  • Discovered a new mutation mechanism driven by trinucleotide repeat expansion and intergenerational instability.
  • Demonstrated that unstable repeats solve genealogic puzzles and enable predictive testing.

Conclusions:

  • Trinucleotide repeat expansion is a significant cause of human inherited diseases.
  • Further understanding of pathogenic processes triggered by expanded repeats is crucial for developing treatments.