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Single Nucleotide Polymorphisms-SNPs

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

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

Published on: June 21, 2018

SNP genotyping using multiplex single base primer extension assays.

Daniele Podini¹, Peter M Vallone

¹Department of Forensic Sciences, The George Washington University, Washington, DC, USA.

Methods in Molecular Biology (Clifton, N.J.)

|September 22, 2009

Summary

This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) are common genetic variations. The single base primer extension (SBE) method efficiently types multiple SNPs in one reaction, aiding diverse genetic analyses.

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Area of Science:

Genetics
Molecular Biology

Background:

Single nucleotide polymorphisms (SNPs) represent the most prevalent type of genetic variation in the human genome.
The single base primer extension (SBE) method offers a sensitive approach for genotyping multiple SNPs simultaneously.

Purpose of the Study:

To provide a detailed framework for designing and optimizing multiplex single base primer extension (SBE) assays.
To guide the adaptation of SBE assays for various analytical applications.

Main Methods:

The chapter outlines the design and optimization strategies for multiplex SBE assays.
It details considerations for tailoring assays to specific analytical requirements.

Main Results:

The single base primer extension (SBE) method enables the typing of over 30 known loci in a single reaction.
This technique supports the analysis of tetra-allelic SNPs and various applications including single-cell analysis, disease diagnosis, forensic analysis, and population studies.

Conclusions:

Multiplex SBE assay development requires customized optimization efforts, proportional to the number of SNPs analyzed per reaction.
The provided guidelines facilitate the tailored design of SBE assays for diverse research and diagnostic needs.