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Related Concept Videos

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,...
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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%...

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Identification and mapping of induced chromosomal deletions using sequence polymorphisms.

Emmanuel Vanrobays1, Barbara H Jennings, David Ish-Horowicz

  • 1Developmental Genetics Laboratory, London Research Institute, Cancer Research UK, 44 Lincoln's Inn Fields, London, UK.

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|January 19, 2010
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Summary

This study introduces a rapid screening method for gene deletions in Drosophila melanogaster using DNA polymorphisms. This technique efficiently identifies single-gene deletions and maps their precise locations, aiding genetic research.

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Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Developmental Biology

Background:

  • Drosophila melanogaster is a valuable model organism for genetic studies.
  • Generating precise gene deletions is crucial for understanding gene function.
  • Existing methods for screening gene deletions can be time-consuming and phenotype-biased.

Purpose of the Study:

  • To develop a simple, fast, and efficient screening method for single-gene deletion events in Drosophila.
  • To identify deletions without prior assumptions about mutant phenotypes.
  • To rapidly delimit deletion breakpoints and map existing deficiencies.

Main Methods:

  • Utilized DNA sequence polymorphisms as co-dominant electrophoretic markers.
  • Screened for candidate deletions in a single generation.
  • Applied polymorphism profiling to map deletion extents and breakpoints (0.5-1 kb).

Main Results:

  • Successfully identified single-gene excision events efficiently and without phenotype bias.
  • Rapidly delimited deletion breakpoints, enabling the identification of specific gene deficiencies.
  • Demonstrated the method's utility in mapping existing deficiencies and deletions induced by X-rays.

Conclusions:

  • The developed polymorphism profiling method offers a fast and unbiased approach for generating and characterizing Drosophila gene deletions.
  • This technique is applicable to various deletion-generating methods, including transposon imprecise excisions, X-ray mutagenesis, and zinc-finger nuclease targeted mutations.
  • The method's adaptability extends to other polymorphic model organisms like zebrafish, mouse, and Caenorhabditis elegans.