[Analysis of expansion of the triplet repeat (CTG)n in myotonic dystrophy patients from Bashkir].
A method was elaborated for simple and rapid diagnosis of myotonic dystrophy (MD). The method consists in estimating expansion of the CTG repeat in the myotonin protein kinase gene by means of PCR amplification of a gene fragment from genomic DNA and Southern hybridization of the amplified fragments with probe (CTG)9. Bashkir patients with Rossolimo-Steinert-Batten-Kurshmann MD were examined with this method.
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia. slomin@img.ras.ru
P A
PA
Slominskiĭ
S N
SN
Popova
R I
RI
Fatkhlislamova
L R
LR
Akhmadeeva
R V
RV
Magzhanov
E K
EK
Khusnutdinova
S A
SA
Limborskaia
D015139:Blotting, Southern; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012426:Russia; D018911:Trinucleotide Repeats