Naslov
Molecular diagnostics of Duchenne-Becker muscular distrophy by MLPA method in University hospital centre Zagreb

Autori
Mekler, Ana ; Ljubić, Hana ; Acman Barišić, Ana ; Caban, Domagoj ; Sertić, Jadranka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Dani kliničke genetike: Što je novo? / Canki-Klain, Nina - Zagreb : Medicinska naklada, 2016, 93-93

Skup
Dani kliničke genetike: Što je novo?

Mjesto i datum
Zagreb, Hrvatska, 10.06.2016. - 11.06.2016

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Duchenne-Becker muscular distrophy (DMD/BMD), MLPA, capillary electrophoresis

Sažetak
Introduction: Duchenne-Becker muscular dystrophy (DMD/BMD) is a result of mutations in DMD gene that leads to complete or partial deficiency of dystrophin protein. DMD/BMD is an X-linked disease, males who inherit the pathogenic variant will be affected, and females who inherit the pathogenic variant are carriers and may or may not develop cardiomyopathy. Deletions of one or more exons are detected in 60 - 70% of mutations in DMD, and 80 - 90% in BMD. Duplications are present in 5 - 10% of DMD or BMD. Methods: Since year 2012 we analyzed 168 DNA samples using MLPA / capillary electrophoresis. Results: We detected 15 hemizygous deletions of one or more exons, and 2 hemizygous duplications, as well as 6 heterozygous deletion and 3 heterozygous duplications. In 3 families deletion or duplication was inherited from the mother, and in 2 families it was probably de novo deletion, because mother was not the carrier of the mutation. Conclusion: Due to the large number of exons that can be analyzed in one reaction, MLPA method represents the gold standard for molecular diagnostics of DMD/BMD.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA