Format

Send to

Choose Destination
See comment in PubMed Commons below
J Mol Diagn. 2010 Sep;12(5):601-6. doi: 10.2353/jmoldx.2010.090239. Epub 2010 Jul 8.

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

Author information

1
Department of Biopathology and Diagnosing Imaging, Tor Vergata University of Rome, Rome, Italy. claudio.catalli@gmail.com

Abstract

Myotonic dystrophy type 2 (DM2, OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9 gene. Routine testing strategies for DM2 require the use of Southern blot or long-range PCR, but the presence of very large expansions and wide somatic mosaicism greatly reduce the sensitivity of these reference techniques. We therefore developed and validated a tetraplet-primed PCR (TP-PCR) method to detect the DM2 mutation by testing 87 DM2-positive and 76 DM2-negative previously characterized patients. The specificity of this technique was evaluated including DNA samples from 39 DM1-positive patients. We then attempted a prospective analysis of 50 patients with unknown genotype who referred to our center for diagnostic or presymptomatic tests. Results show that TP-PCR is a fast, reliable, and flexible technique, whose specificity and sensitivity is almost 100%, with no false positive or negative results either in retrospective and prospective applications. We therefore conclude that using this technique, in combination with the short-range PCR, is sufficient to correctly establish the presence or the absence of ZNF9 expanded alleles in the molecular diagnosis of DM2.

PMID:
20616365
PMCID:
PMC2928423
DOI:
10.2353/jmoldx.2010.090239
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center