Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

C Tsilfidis; A E MacKenzie; G Mettler; J Barceló; R G Korneluk

doi:10.1038/ng0692-192

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

Nat Genet. 1992 Jun;1(3):192-5. doi: 10.1038/ng0692-192.

Authors

C Tsilfidis¹, A E MacKenzie, G Mettler, J Barceló, R G Korneluk

Affiliation

¹ Department of Microbiology and Immunology, University of Ottawa, Ontario, Canada.

PMID: 1303233
DOI: 10.1038/ng0692-192

Abstract

The myotonic dystrophy (DM) mutation has recently been identified as an unstable trinucleotide CTG repeat which is present 5-30 times in the normal population but which is amplified up to 2,000 times in DM. We have determined the status of the CTG repeat in 272 DM individuals. Infants with severe congenital DM, as well as their mothers, are shown to have on average a greater amplification of the CTG repeat than is seen in the noncongenital DM population. This fact, when viewed in conjunction with the tendency to increased CTG repeat length in our DM kindreds, provides evidence for the existence of genetic anticipation in the transmission of DM.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
DNA / genetics
Female
Gene Amplification
Humans
Infant, Newborn
Linkage Disequilibrium
Male
Myotonic Dystrophy / congenital*
Myotonic Dystrophy / genetics*
Polymorphism, Genetic
Pregnancy
Repetitive Sequences, Nucleic Acid*

Substances

DNA