rss
Ann Rheum Dis 2004;63:438-443 doi:10.1136/ard.2003.009258
  • Extended report

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients

  1. K Ritis1,
  2. S Giaglis1,
  3. N Spathari1,
  4. A Micheli1,
  5. D Zonios2,
  6. D Tzoanopoulos1,
  7. C C Deltas4,
  8. S Rafail1,
  9. R Mean3,
  10. V Papadopoulos1,
  11. A G Tzioufas2,
  12. H M Moutsopoulos2,
  13. G Kartalis1
  1. 1First Division of Internal Medicine, Democritus University of Thrace, Alexandroupolis, Greece
  2. 2Department of Pathophysiology, Athens University Medical School, Athens, Greece
  3. 3Department of Biological Sciences, University of Cyprus
  4. 4The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  1. Correspondence to:
    Dr Konstantinos Ritis
    PO BOX 205, 68 100 Alexandroupolis, Greece; ritis2otenet.gr
  • Accepted 30 June 2003

Abstract

Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined.

Objective: To describe a method that facilitates the routine screening of the entire coding sequence of MEFV (excluding exon 1).

Methods: The non-isotopic RNase cleavage assay (NIRCA) was optimised and used as a first step screening method to screen exons 2 to 10 of MEFV. Exons 2 and 10 were analysed separately at DNA level, while exons 3 to 9 were analysed together at cDNA level. The sample group consisted of 26 FMF patients diagnosed using established clinical criteria, six asymptomatic relatives, 12 patients with atypical clinical manifestations, nine patients suffering from various inflammatory diseases, and three normal individuals. All were analysed by NIRCA for mutations in the MEFV gene and direct sequencing was applied subsequently to confirm the results.

Results:MEFV mutations were identified in 25 of 26 typical FMF patients and in two of 12 patients with atypical manifestations. NIRCA results were in concordance with sequencing findings in all sequences analysed, suggesting that the method is highly reliable in this disease. Sixteen alterations of MEFV were identified (eight missense mutations and eight single nucleotide polymorphisms).

Conclusions: NIRCA can be used for rapid screening of the coding sequence of the MEFV gene in patients suspected of suffering from FMF.

Footnotes

    This Article

    1. Abstract
    2. Full text
    3. PDF

    Responses

    1. Submit a response
    2. No responses published

    Register for free content

    The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.