Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s) Journal Article

   


Authors: Danenberg, P. V.; Horikoshi, T.; Volkenandt, M.; Danenberg, K.; Lenz, H. J.; Shea, L. C. C.; Dicker, A. P.; Simoneau, A.; Jones, P. A.; Bertino, J. R.
Article Title: Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s)
Abstract: RNA molecules were found to separate into numerous metastable conforimatiional forms upon non-denaturing gel electrophoresis. The equilibration of the conformations was accelerated by heating or mild denaturing conditions. Single-base substitutions in the conformational patterns, including mobility shifts of major and minor conformations, appearance of new conformations and loss of other conformations. This sequence-dependent RNA conformational polymorphism was used to detect point mutations in p53 and, dihydrofolate reductase genes. Sense and anti-sense RNA strands corresponding to the same segment of the p53 gene gave entirely different conformational patterns. To generate the RNA, short regions of the target genes (up to about 250 bp) were amplified by the polymerase chain reaction and the resulting DNA segments transcribed to RNA by 17 RNA polymerase. The method is rapid, simple, amenable to non-radioactive visualization and was successful in several cases when DMA single-strand conformational polymorphism analysis (Orita et al. (1989) Genomics S, 874-879) failed to detect the point mutation. © 1992 Oxford University Press.
Keywords: gene mutation; human cell; mutation; polymerase chain reaction; gene; cell line; protein p53; rna; dna; molecular sequence data; base sequence; temperature; nucleic acid conformation; point mutation; dihydrofolate reductase; tetrahydrofolate dehydrogenase; technique; electrophoresis; electrophoretic mobility; genes, p53; genetic polymorphism; rna sequence; gel electrophoresis; rna analysis; nucleic acid base substitution; rna conformation; human; priority journal; article; polymorphism (genetics); denaturation; support, non-u.s. gov't
Journal Title: Nucleic Acids Research
Volume: 20
Issue: 3
ISSN: 0305-1048
Publisher: Oxford University Press  
Date Published: 1992-02-11
Start Page: 573
End Page: 579
Language: English
DOI: 10.1093/nar/20.3.573
PUBMED: 1371351
PROVIDER: scopus
PMCID: PMC310425
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-0026569498&doi=10.1093%2fnar%2f20.3.573&partnerID=40&md5=95b38a23bfb373935ae594d8b13b47f7
Notes: Source: Scopus
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MSK Authors
  1. Joseph Bertino
    363 Bertino
  2. Matthias Volkenandt
    27 Volkenandt
  3. Adam P. Dicker
    15 Dicker
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