SSCP Analysis: A blind sensitivity trial

Albena Jordanova, Luba Kalaydjieva, Alexey Savov, Mireille Claustres, Martin Schwarz, Xavier P. Estivill, Dora Angelicheva, Andrea Haworth, Teresa Casals, Ivo Kremensky

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62 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)65-70
Number of pages6
JournalHuman Mutation
Volume10
Issue number1
DOIs
Publication statusPublished - 1997
Externally publishedYes

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Keywords

  • Mutation detection
  • Sensitivity
  • SSCP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Jordanova, A., Kalaydjieva, L., Savov, A., Claustres, M., Schwarz, M., Estivill, X. P., Angelicheva, D., Haworth, A., Casals, T., & Kremensky, I. (1997). SSCP Analysis: A blind sensitivity trial. Human Mutation, 10(1), 65-70. https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L