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Single Nucleotide Polymorphisms-SNPs

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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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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

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Functional analysis of regulatory single-nucleotide polymorphisms.

Sandra Pampín¹, José C Rodríguez-Rey

¹Department of Molecular Biology, Faculty of Medicine, University of Cantabria, Santander, Spain.

Current Opinion in Lipidology

|March 14, 2007

Summary

Identifying regulatory single-nucleotide polymorphisms (SNPs) is crucial for understanding common diseases. New gene expression techniques, combined with in-vivo and in-vitro methods, are improving the detection of functional SNPs and refining future genetic analyses.

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Area of Science:

Human Genetics
Molecular Biology
Genomics

Background:

Regulatory polymorphisms are key challenges in human genetics.
Recent conceptual shifts are transforming the study of regulatory single-nucleotide polymorphisms (SNPs).
Gene expression studies offer insights into the genetic basis of common diseases.

Purpose of the Study:

To review novel approaches for identifying regulatory SNPs.
To discuss the role of gene expression studies in understanding common disease genetics.
To highlight advancements in the association of SNPs with gene expression.

Main Methods:

Development of new techniques linking SNPs to gene expression changes.
Comprehensive utilization of established in-vitro methods.
Application of in-vivo techniques like primer-extension and haploChIP.

Main Results:

Significant advancements in associating SNPs with gene expression alterations.
Generation of substantial genetic information through new and existing methods.
Improved tools for detecting regulatory SNPs are being developed.

Conclusions:

Functional regulatory SNPs require more than DNA sequence inspection for identification.
In-vivo and in-vitro gene expression analyses are essential for determining functional SNP consequences.
Accumulated data will refine tools for future regulatory gene variant analysis.