Detection of mutations by single-strand conformation polymorphism (SSCP) analysis and SSCP-hybrid methods

Current Protocols in Human Genetics
W WarrenS S Sommer

Abstract

Single-strand conformation polymorphism (SSCP) analysis detects mutations based on the fact that single-nucleotide changes in DNA sequences alter the mobility of single-stranded DNA in nondenaturing gels. Four methods for detecting mutations based on SSCP are described here. (1) Traditional SSCP analysis is technically easy and can be used for screening large numbers of samples. SSCP-hybrid methods detect mutations based on either an SSCP effect or an altered component independent of the SSCP effect. (2) Dideoxy fingerprinting (ddF) involves PCR amplification of the target and creation of a set of dideoxy-terminated strands with the mutation. (3) Bi-directional dideoxy fingerprinting (Bi-ddF) involves production of two sets of dideoxy-terminated strands that are generated from two different primers. (4) Restriction endonuclease fingerprinting (REF) involves cleavage of the amplified target with five to six groups of restriction endonucleases.

References

Jul 25, 1991·Nucleic Acids Research·L SpinardiC Theillet
Jun 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·G GaidanoR Dalla-Favera
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
Oct 1, 1994·PCR Methods and Applications·Q Liu, S S Sommer

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Citations

Jun 3, 2000·Nature Genetics·N C ArbourD A Schwartz
Apr 7, 2017·Current Protocols in Human Genetics·Lynette M ShollFrank C Kuo

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