Molecular diagnostics of Duchenne/Becker muscular dystrophy

Mendelovo Centrum pro vzdělání v biologii, biomedicíně a bioinformatice
a Centrum molekulární biologie a genové terapie FN
zvou na přednášku
Molecular diagnostics of Duchenne/Becker muscular
dystrophy
7.prosince 2009, v 14:30 hodin
posluchárna Centra molekulární biologie a genové terapie IHOK FN Brno
(pracoviště Dětská nemocnice, Černopolní 9, 613 00 Brno)
Mgr. Zuzana Hrubá
Abstract:
DMD is neurodegenerative disease with X-linked recesive inheritance, BMD is milder form of this
disorder. The main symptom of DMD/BMD is progresive muscle weakness induced by destruction of
muscular fibres, patients are usually wheelchair-dependent by age 10 years and dead by age 20
years. This disorder is due to mutations in dystrophin gene. The patient´s phenotype (DMD or
variable form of BMD) is based on the type and size of mutation. The most frequent types of
mutations are large deletions in dystrophin gene, about 30% are point mutations. Molecular
diagnostics of DMD/BMD is based on DNA analysis from peripheral blood or RNA analysis from
muscular biopsy.
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