Genetic Disorders
Novel assay improves diagnosis of myotonic dystrophy type 2
Published in Medical Devices and Surgical Technology Week, November 7th, 2004
DM2 "lacks the expansion on chromosome 19q13 present in DM1 and is characterized by a mutation on 3q21," pathologists in Italy explained. "It has been shown that the DM2 mutation is a huge [CCTG]n repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene."
"The longest normal allele observed has an approximately 30 CCTG repeat, whereas the range of expansion is extremely variable, starting from 75 up to 11,000 CCTGs," noted E. Bonifazi and colleagues at the Tor Vergata University of Rome. "Direct analysis by Southern blot, after restriction enzyme...
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