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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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Related Experiment Video

Updated: Jun 1, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Multiplex SNP-SCALE: a cost-effective medium-throughput single nucleotide polymorphism genotyping method.

T Kenta1, J Gratten, N S Haigh

  • 1Department of Animal & Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK, Current address: Sugadiva Montane, Experimental Center, University of Tsukuba, Ueda, 386-2204, Japan.

Molecular Ecology Resources
|May 19, 2011
PubMed
Summary
This summary is machine-generated.

Multiplex SNP-SCALE is a new, cost-effective method for genotyping up to 25 single nucleotide polymorphisms (SNPs) simultaneously using polymerase chain reaction (PCR) and automated sequencing. This approach is ideal for medium-scale evolutionary and ecological studies.

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Last Updated: Jun 1, 2026

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • High-throughput genotyping is crucial for evolutionary and ecological research.
  • Existing methods can be costly and time-consuming for medium-scale projects.
  • The original SNP-SCALE method offered a foundation for SNP genotyping.

Purpose of the Study:

  • To develop an enhanced, cost-effective, and flexible medium-throughput single nucleotide polymorphism (SNP) genotyping method.
  • To adapt the SNP-SCALE protocol for simultaneous amplification of multiple loci.
  • To validate the improved method for various SNP types.

Main Methods:

  • Utilized a commercial multiplex polymerase chain reaction (PCR) kit and a four-dye system.
  • Implemented reduced 2-µL reaction volumes and dried template DNA prior to PCR.
  • Incorporated pig-tailed primers, PCR product weighting, and optimized touchdown PCR cycling.
  • Developed automated primer design software (SNP-SCALE Primer Designer).

Main Results:

  • Successfully amplified up to 25 loci simultaneously via multiplex PCR.
  • Validated the method across diverse single nucleotide polymorphism (SNP) types.
  • Demonstrated cost- and time-effectiveness for medium-scale projects.

Conclusions:

  • Multiplex SNP-SCALE provides a convenient and flexible medium-throughput genotyping solution.
  • The enhanced protocol is suitable for evolutionary and ecological studies requiring 10s to 100s of loci.
  • This method offers a valuable tool for genetic research at a moderate scale.