[Expansion and mutation rate in CTG repeats in the myotonic dystrophy gene].
The CTG repeat of the myotonic dystrophy (MD) gene was analyzed in 62 MD patients 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 clinical signs of MD. Family analysis showed that the CTG repeat number increased, which was associated with anticipation, decreased, or remained the same (17.6%) in alleles transmitted from parents to their children. The spontaneous mutation rate of the CTG repeat was estimated at 4 x 10(-2). Instability was characteristic of alleles with more than 19 repeated units.
Khidiiatova
I M
IM
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Bashkortostan, Russia.
Fatkhlislamova
R I
RI
Magzhanov
R V
RV
Popova
S N
SN
Slominskiĭ
P A
PA
Limborskaia
S A
SA
Khusnutdinova
E K
EK
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion