[Diagnosis of Duchenne and Becker muscular dystrophy in Slovak patients using multiplex polymerase chain reaction].
The authors of the paper describe the diagnostic method of deletion in the dystrophin gene by means of an improved variant of the polymerase chain reaction--so called multiplex PCR. The authors analyzed a group of 66 patients with developed clinical symptoms of the disease. The deletion screening included 22 exones of the dystrophine gene and it was performed in 5 multiplex PCR reactions. 20 patients yielded a verified deletion which was pre-assessed by Southern's hybridization. The relative simplicity of multiplex PCR which does not require the use of radioisotopes, its low time and financial needs, make this method to represents an appropriate alternative of Southern's hybridization in the assessment of deletion of the dystrophine gene. (Fig. 1, Ref. 19.)
Centrum lekárskej genetiky pri Fakultnej nemocnici v Bratislave, Slovakia.
J
J
Simko
L
L
Zatkalíková
R
R
Mezenská
R
R
Behulová
O
O
Mináriková
F
F
Simko
D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods
D016189:Dystrophin; D005819:Genetic Markers