| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From Klinik und Poliklinik für Neurologie (Drs. Young, Stögbauer, and Ringelstein), Westfälische Wilhelms-Universität; Institut für Arterioskleroseforschung an der Universität Münster (Drs. Wiebusch, Assmann, and Funke); and Institut für Klinische Chemie und Laboratoriumsmedizin (Drs. Assmann and Funke), Zentrallaboratorium, Westfälische Wilhelms-Universität, Münster, Germany; and from the Neurogenetics Laboratory (Drs. Timmerman and Van Broeckhoven and A. Löfgren), Flanders Interuniversity Institute for Biotechnology (VIB), Born Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerp, Belgium.
Address correspondence and reprint requests to Dr. Peter Young, Klinik und Poliklinik für Neurologie, Westfälische Wilhelms-Universität, D-48129 Münster, Germany.
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which contains the peripheral myelin protein 22 gene(PMP22). We developed a rapid and simple quantitative PCR assay for the detection of the CMT1A duplication or the HNPP deletion. The assay is based on the quantitative determination of the copy number of a 240-base pair DNA fragment from exon 4 of the PMP22 gene. Quantification was done on an automated fluorescence sequencer. Using this method we analyzed four families with the HNPP phenotype. In these families we identified the deletion in all affected individuals. To test the validity of the method, we compared the quantitative PCR results from 50 DNA samples, including 15 samples from individuals with HNPP, 15 samples from CMT1A patients, and 20 from normal controls, with the results obtained by Southern blot analysis. Concordant results were obtained in 49 of the 50 cases.
Supported in part by grants from the Belgian National Fund for Scientific Research (NFSR) and a special research fund of the University of Antwerp, Belgium. V.T. is a research assistant of the NFSR. C.V.B. is the coordinator of the European CMT Consortium sponsored by an EU Biomed 2 Concerted Action(CT 96-1614).
Drs. Young and Stögbauer contributed equally to the work presented in this paper.
Received February 17, 1997. Accepted in final form September 29, 1997.
This article has been cited by other articles:
|
|
 |
|
  D. Pareyson, D. Testa, M. Morbin, A. Erbetta, C. Ciano, G. Lauria, M. Milani, and F. Taroni Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins? Neurology, May 27, 2003; 60(10): 1721 - 1722. [Full Text] [PDF]
|
|
|
|
 |
|
 J. L. Badano, K. Inoue, N. Katsanis, and J. R. Lupski New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis Clin. Chem., May 1, 2001; 47(5): 838 - 843. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. J FLINTOFF, E. SHERIDAN, G. TURNER, C. E CHU, and G. R TAYLOR Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning J. Med. Genet., February 1, 2001; 38(2): 129 - 132. [Full Text]
|
|
|
|
|
|
C. Ruiz-Ponte, L. Loidi, A. Vega, A. Carracedo, and F. Barros Rapid Real-Time Fluorescent PCR Gene Dosage Test for the Diagnosis of DNA Duplications and Deletions Clin. Chem., October 1, 2000; 46(10): 1574 - 1582. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
