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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 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

SNP genotyping using the Sequenom MassARRAY iPLEX platform.

Stacey Gabriel1, Liuda Ziaugra, Diana Tabbaa

  • 1Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Current Protocols in Human Genetics
|January 27, 2009
PubMed
Summary
This summary is machine-generated.

This study details a SNP genotyping method using Sequenom MassARRAY. The assay employs PCR and single base extension, with mass spectrometry identifying single nucleotide polymorphism alleles.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biotechnology

Background:

  • Single Nucleotide Polymorphisms (SNPs) are key genetic markers.
  • Accurate SNP genotyping is crucial for various research fields.
  • Existing methods may have limitations in throughput or cost.

Purpose of the Study:

  • To describe a robust method for SNP genotyping.
  • To leverage the Sequenom MassARRAY platform for allele identification.
  • To provide a detailed protocol for researchers.

Main Methods:

  • Utilizes locus-specific Polymerase Chain Reaction (PCR).
  • Employs single base extension with mass-modified terminators.
  • Analyzes extended primers via MALDI-TOF mass spectrometry.

Main Results:

  • The distinct mass of extended primers directly correlates with specific SNP alleles.
  • The method allows for precise identification of the polymorphic site.
  • Successful genotyping is achieved through mass spectrometry analysis.

Conclusions:

  • The described method offers reliable SNP genotyping.
  • The Sequenom MassARRAY platform provides an effective tool for this assay.
  • This approach facilitates accurate genetic variation analysis.