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How sensitive is PCR‐SSCP?
Author(s) -
Hayashi Kenshi,
Yandell David W.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020503
Subject(s) - biology , single strand conformation polymorphism , genetics , polymerase chain reaction , gene , genome , dna , dna sequencing , mutation , computational biology , microbiology and biotechnology
Single‐strand conformation polymorphism analysis (SSCP) is a rapid method for detection of minor sequence changes in polymerase chain reaction‐amplified DNA. Since the first reported use of SSCP in 1989 (Orita et al., 1989), this tehnique has been used widely to detect mutations in oncogenes, tumor suppressor genes, and genes responsible for genetic diseases. Published mutations that have been detected using this technique include base substitutions, small insertions and deletions, and rearrangements. This technique has also been applied for the detection of DNA polymorphisms at various loci of the human genome (reviewed by Hayashi, 1991; Hayashi, 1993). However, many factors can influence the sensitivity of SSCP, and its optimization is highly empirical. In this review, we estimate the percentage of mutations that can be detected by this technique under various controlled conditions, and describe some critical elements affecting sensitivity. © 1993 Wiley‐Liss, Inc.