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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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.
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Translation01:31

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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.
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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...
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.

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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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Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

Maitane Barasoain1, Gorka Barrenetxea, Eduardo Ortiz-Lastra

  • 1Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.

Annals of Human Genetics
|January 4, 2012
PubMed
Summary

Fragile X Syndrome (FXS) instability is linked to CGG repeat expansion in the FMR1 gene. This study found specific single nucleotide polymorphisms (SNPs) associated with instability, with variations between Basque populations suggesting localized genetic influences.

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Area of Science:

  • Genetics
  • Human Genetics
  • Molecular Genetics

Background:

  • Fragile X Syndrome (FXS) is caused by CGG trinucleotide repeat expansion in the FMR1 gene's 5' untranslated region.
  • Investigating stable genetic markers like single nucleotide polymorphisms (SNPs) can elucidate the origins of CGG repeat instability.
  • Understanding population-specific genetic variations is crucial for comprehending FXS etiology.

Purpose of the Study:

  • To analyze the association between seven specific SNPs and CGG repeat size, AGG interruption patterns, and microsatellite markers in two Basque populations.
  • To identify potential cis-acting sequences influencing CGG repeat instability.
  • To compare the frequency, structure, and haplotype associations of susceptible alleles between the Markina and Arratia valleys.

Main Methods:

  • Genotyping of seven selected SNPs (WEX28, WEX70, WEX1, ATL1, FMRb, WEX17, WEX10) in individuals from Markina and Arratia.
  • Analysis of CGG repeat size and AGG interruption patterns.
  • Examination of microsatellite markers FRAXAC1 and DXS548.
  • Haplotype analysis of SNPs and microsatellites.

Main Results:

  • Specific SNP alleles (WEX28-T, WEX70-C, WEX1-C, ATL1-G, WEX10-C) were associated with CGG repeat instability in both valleys.
  • Significant differences were observed between the valleys regarding the frequency and structure of susceptible alleles.
  • SNP haplotype associations differed, suggesting SNP status does not identify susceptible alleles in Arratia as it does in Markina.
  • A potential protective factor was identified in the Arratia valley through SNP haplotype association.

Conclusions:

  • Certain SNPs are associated with FMR1 CGG repeat instability, with variations in these associations between populations.
  • Population-specific genetic factors influence the instability of CGG repeats in the FMR1 gene.
  • The findings highlight the importance of considering regional genetic differences when studying FXS and its underlying mechanisms.