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SSCP analysis: A blind sensitivity trial
Author(s) -
Jordanova Albena,
Kalaydjieva Luba,
Savov Alexey,
Claustres Mireille,
Schwarz Martin,
Estivill Xavier,
Angelicheva Dora,
Haworth Andrea,
Casals Teresa,
Kremensky Ivo
Publication year - 1997
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/(sici)1098-1004(1997)10:1<65::aid-humu9>3.0.co;2-l
Subject(s) - biology , hum , single strand conformation polymorphism , genetics , mutation , microbiology and biotechnology , gene , art , performance art , art history
Studies of the sensitivity of SSCP analysis usually have been performed under conditions contrary to the rules of quality control trials and have produced widely different results. We have performed a blind trial of the sensitivity of SSCP analysis for the detection of mutations in fragments up to 500 bp in length under a fixed single set of electrophoretic conditions. The mutation detection rate was 84%. In addition, we have identified a second mutation in nine samples. All these mutations are polymorphisms, including a novel polymorphism 1248+52T/C first reported in the present work. Hum Mutat 10:65–70, 1997. © 1997 Wiley‐Liss, Inc.