Advertisement

A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507

  • Martin Schwarz
  • Claire Summers
  • Lesley Heptinstall
  • Clive Newton
  • Alexander Markham
  • Maurice Super
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 290)

Summary

During the development of an amplification refractory mutation system (ARMS)1 assay for the detection of the DeltaF508 mutation2,3,4 and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence exists. PCR amplification and direct sequencing of a region of exon 10 of the CFTR locus indicated the deletion of the three base pairs encoding isoleucine506 or isoleucine507, or possibly the presence of a single base substitution in conjunction with the DeltaF508 mutation. The resulting protein has a deletion of an isoleucine residue at position 507 as opposed to the previously described deletion of phenylalanine at position 508. We conclude that the loss of an isoleucine residue at position 507 (DeltaI507) is another defective variant of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene product.

Keywords

Cystic Fibrosis Transmembrane Conductance Regulator Single Base Substitution Cystic Fibrosis Transmembrane Conductance Regulator Gene Isoleucine Residue Defective Variant 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Newton, C.R., Graham, A., Heptinstall, L.E., (1989), Nucl. Acids Res., 17:2503.PubMedCrossRefGoogle Scholar
  2. 2.
    Rommens, J.M., Ianuzzi, M.C., Kerem, B., 1989, Science, 245: 1059.PubMedCrossRefGoogle Scholar
  3. 3.
    Riordan, J.R., Rommens, J.M., Kerem, B., 1989, Science, 245: 1066.PubMedCrossRefGoogle Scholar
  4. 4.
    Kerem, B., Rommens, J.M., Buchanan, J.A., 1989, Science, 245: 1073.PubMedCrossRefGoogle Scholar
  5. 5.
    Schwarz, M. J., Super, M., Wallis, C., 1990, Hum. Genet. (In press).Google Scholar
  6. 6.
    Newton, C.R., Kalsheker, N., Graham, A., 1988, Nucleic Acids Res., 16:8233.PubMedCrossRefGoogle Scholar
  7. 7.
    Newton, C.R. and Markham, A.F., 1988, Method for detecting nucleotide sequences, European Patent Application 0 332 435.Google Scholar
  8. 8.
    Estivill, X., (1987) Genomics, 1:257.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • Martin Schwarz
    • 1
  • Claire Summers
    • 2
  • Lesley Heptinstall
    • 2
  • Clive Newton
    • 2
  • Alexander Markham
    • 2
  • Maurice Super
    • 1
  1. 1.Paediatric Genetics UnitRoyal Manchester Children’s HospitalManchesterUK
  2. 2.ICI DiagnosticsNorthwich, CheshireUK

Personalised recommendations