Document Detail

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
MedLine Citation:
PMID:  15652222     Owner:  NLM     Status:  MEDLINE    
Myotonic dystrophy type 2 (DM2) is a dominant inherited disorder clinically similar to myotonic dystrophy type 1 (DM1) with a peculiar pattern of multisystemic phenotypic features. The mutation responsible for DM1 is a CTG repeat in the 3' UTR of the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q13.3, while DM2 is caused by an unstable CCTG expansion in intron 1 of the zinc finger protein 9 gene (ZNF9) on chromosome 3q21.3. Southern blotting analysis is the conventional test used to determinate the size of the repeats in the molecular diagnosis of DM2. However, the large number of CCTG repeats and their somatic instability complicates this diagnostic protocol. In order to improve the DM2 test, we have recently characterised a single nucleotide polymorphism located in the first intron of the ZNF9 gene. This SNP consists in a C to A nucleotide change, which creates or disrupts and ApaI enzyme restriction site, easily detectable by PCR amplification followed by restriction analysis. We genotyped this SNP in 30 unrelated DM2 patients and 70 unrelated Italians healthy individuals. Our results show that this polymorphism is in linkage disequilibrium with the DM2 mutation.
L Vallo; E Bonifazi; P Borgiani; G Novelli; A Botta
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-11-12
Journal Detail:
Title:  Molecular and cellular probes     Volume:  19     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:  2005 Feb 
Date Detail:
Created Date:  2005-01-17     Completed Date:  2005-06-30     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  England    
Other Details:
Languages:  eng     Pagination:  71-4     Citation Subset:  IM    
Cattedra di Genetica Umana, Dipartimento di Biopatologia e Diagnostica per Immagini, Facoltà di Medicina e Chirurgia, Università di Roma Tor Vergata, 00133 Rome, Italy.
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MeSH Terms
Case-Control Studies
Italy / epidemiology
Linkage Disequilibrium
Molecular Epidemiology
Myotonic Dystrophy / diagnosis*,  epidemiology,  genetics*
Polymorphism, Single Nucleotide*
RNA-Binding Proteins / genetics*
Reg. No./Substance:
0/CNBP protein, human; 0/RNA-Binding Proteins

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