SpringerProtocols: Abstract: SNP Detection and Allele Frequency Determination by SSCP

SNP Detection and Allele Frequency Determination by SSCP

By: Tomoko Tahira², Akari Suzuki², Yoji Kukita², Kenshi Hayashi²

Abstract

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Single-strand conformation polymorphism (SSCP) analysis is a sensitive mutation detection system that has been widely used in the field of medical genetics (1,2). In this method, PCR products are denatured to become single-stranded, and separated by gel electrophoresis under nondenaturing conditions. A single-stranded fragment with a mutation or single nucleotide polymorphism (SNP) has a different conformation from its wild-type counterpart, and these conformational differences result in differing electrophoretic mobility. To identify SNPs at polymorphic sequence-tagged sites (STSs), it is necessary to sequence the STSs in individuals with different genotypes. However, once an SNP sequence is correlated with the corresponding fragment mobility in an SSCP analysis, sequencing may not be necessary for genotyping, because SSCP electrophoresis is highly reproducible (3,4).

Affiliation(s): (2) Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Higashi-ku, Fukuoka, Japan

Book Title: Single Nucleotide Polymorphisms: Methods and Protocols

Series: Methods in Molecular Biology | Volume: 212 | Pub. Date: Oct-07-2002 | Page Range: 37-46 | DOI: 10.1385/1-59259-327-5:037

Subject: Genetics/Genomics

References

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