A study of expansion and mutation rate of the CTG repeat in the myotonic dystrophy gene

Authors
Khidiyatova, IM Fatkhlislamova, RI Magzhanov, RV Popova, SN Slominsky, PA Limborska, SA Khusnutdinova, EK
Citation
Im. Khidiyatova et al., A study of expansion and mutation rate of the CTG repeat in the myotonic dystrophy gene, RUSS J GEN, 36(10), 2000, pp. 1185-1187
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
RUSSIAN JOURNAL OF GENETICS
ISSN journal
10227954 → ACNP
Volume
36
Issue
10
Year of publication
2000
Pages
1185 - 1187
Database
ISI
SICI code
1022-7954(200010)36:10<1185:ASOEAM>2.0.ZU;2-D
Abstract
The CTG repeat of the myotonic dystrophy (MD) gene was analyzed in 62 MD pa tients and 54 healthy members of their families. A CTG repeat expansion was revealed in 57 (92%) patients and in 12 relatives who did not express clin ical signs of MD. Family analysis showed that the CTG repeat number increas ed, which was associated with anticipation, decreased, or remained the same (17.6%) in alleles transmitted from parents to their children. The spontan eous mutation rate of the CTG repeat was estimated at 4 x 10(-2). Instabili ty was characteristic of alleles with more than 19 repeated units.