Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent

L. J C Wong, T. Ashizawa, D. G. Monckton, C. T. Caskey, Carolyn (Sue) Richards

Research output: Contribution to journalArticle

174 Citations (Scopus)

Abstract

The most common form of adult muscular dystrophy, myotonic dystrophy (DM), is caused by the abnormal expansion of the CTG repeat, located in the 3' UTR of the DM gene. The expanded-CTG allele often presents as a diffused band on Southern blot analysis, suggesting somatic mosaicism. In order to study the somatic instability of the CTG repeat, we have investigated the dynamics of the size heterogeneity of the CTG expansion. Size heterogeneity is shown as a smear on Southern blot and is measured by the midpeak-width ratio of the expanded allele to the normal sized allele. The ratio is also corrected for compression in the higher-molecular-weight region. It is found that the size heterogeneity of the expanded-CTG repeats, of 173 DM patients, correlates well with the age of the patient (r = .81, P

Original languageEnglish (US)
Pages (from-to)114-122
Number of pages9
JournalAmerican Journal of Human Genetics
Volume56
Issue number1
StatePublished - 1995
Externally publishedYes

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Myotonic Dystrophy
Alleles
Southern Blotting
Mosaicism
Muscular Dystrophies
3' Untranslated Regions
Molecular Weight
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. / Wong, L. J C; Ashizawa, T.; Monckton, D. G.; Caskey, C. T.; Richards, Carolyn (Sue).

In: American Journal of Human Genetics, Vol. 56, No. 1, 1995, p. 114-122.

Research output: Contribution to journalArticle

Wong, L. J C ; Ashizawa, T. ; Monckton, D. G. ; Caskey, C. T. ; Richards, Carolyn (Sue). / Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. In: American Journal of Human Genetics. 1995 ; Vol. 56, No. 1. pp. 114-122.
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