Mutation analysis of dysferlin gene in a Chinese family with Miyoshi myopathy
- VernacularTitle:Miyoshi肌病致病基因的突变分析
- Author:
Bingfeng ZHANG
;
Shunchang SUN
;
Qishi FAN
- Publication Type:Journal Article
- Keywords:
DYSF gene;
mutation;
Miyoshi myopathy;
Limb-girdle muscular dystrophy type 2B
- From:
Chinese Journal of Clinical Laboratory Science
2006;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective Two autosomal recessive forms of muscular dystrophy:LGMD2B and Miyoshi myopathy may be indused by dysferlin gene mutation.The purpose of this study was to define molecular defects in dysferlin gene in a family with Miyoshi myopathy.Methods mRNA from peripheral blood in a Chinese Miyoshi myopathy pedigree was amplified by RT-PCR and the mutation was determined by sequencing the amplified products.Results The results of sequencing revealed a novel homozygous mutation,a 6429delG,on exon 53 of the dysferlin gene for the patients.Conclusion The 6429delG mutation in the dysferlin gene of patients creates a frameshift mutation which induces a stop codon at 2035 on exon 54 and the premature dysferlin contributes to the Miyoshi myopathy in the Chinese pedigree.
