Tiny mutations of Duchenne muscular dystrophy gene in 45 patients with Duchenne muscular dystrophy / 中华神经医学杂志
Chinese Journal of Neuromedicine
; (12): 43-47, 2018.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-1034732
Biblioteca responsable:
WPRO
ABSTRACT
Objective To investigate the characteristics of point mutation,deletion or insertion mutations in Duchenne muscular dystrophy (DMD) gene.Methods Clinically confirmed 45 DMD patients without deletion/duplication mutation confirmed by MLPA in our hospital from January 2011 to November 2016 were chosen.Two generation sequencing technology was employed to detect DMD gene sequences.The features of tiny mutations were analyzed and summarized.Results In 45 patients without deletion/repeat mutation DMD,there were 66 mutations,including 24 missense mutations,20 nonsense mutations,12 splice site mutations,9 frameshift mutations and one synonymous mutation.There were 29 patients carrying one mutation,8 patents carrying 2 mutations,4 patients carrying 3 mutations,4 patients carrying 3 mutations,and one patient carrying 5 mutations.The exon 48 missense mutations were the most common,followed by exon 37 and exon 59;nonsense mutations,frameshift mutations,splice site mutations,and synonymous mutations had no obvious concentration distribution trend.Conclusion The exons 48,37 and 59 should be mainly considered during the drug research and development of tiny mutations,and readingthrough treatment of nonsense mutations is suitable for nonsense mutations.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Neuromedicine
Año:
2018
Tipo del documento:
Artículo