Analysis of (CTG)(n) triplet repeat expansion in patients with myotonic dystrophy from Bashkiria

Authors
Slominsky, PA Popova, SN Fatkhlislamova, RI Akhmadeeva, LR Magzhanov, RV Khusnutdinova, EK Limborska, SA
Citation
Pa. Slominsky et al., Analysis of (CTG)(n) triplet repeat expansion in patients with myotonic dystrophy from Bashkiria, RUSS J GEN, 36(6), 2000, pp. 695-698
Citations number
18
Categorie Soggetti
Molecular Biology & Genetics
Journal title
RUSSIAN JOURNAL OF GENETICS
ISSN journal
10227954 → ACNP
Volume
36
Issue
6
Year of publication
2000
Pages
695 - 698
Database
ISI
SICI code
1022-7954(200006)36:6<695:AO(TRE>2.0.ZU;2-O
Abstract
A method was elaborated for simple and rapid diagnosis of myotonic dystroph y (MD). The method consists in estimating expansion of the CTG repeat in th e myotonin protein kinase gene by means of PCR amplification of a gene frag ment from genomic DNA and Southern hybridization of the amplified fragments with probe (CTG)(9). Bashkir patients with Rossolimo-Steinert-Batten-Kursh mann MD were examined with this method.