Detection of dystrophin gene mutation in a Chinese pedigree affected with Duchenne muscular dystrophy.
- Author:
Qing DU
1
;
Yali LIU
;
Li TIAN
;
Ling ZHANG
;
Rong DU
;
Yuanzhou ZHU
;
Jianfang ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Amino Acid Sequence; Asian Continental Ancestry Group; genetics; Base Sequence; Case-Control Studies; Child; Child, Preschool; China; Dystrophin; genetics; Exons; Female; Humans; Male; Molecular Sequence Data; Muscular Dystrophy, Duchenne; genetics; Mutation, Missense; Pedigree; Young Adult
- From: Chinese Journal of Medical Genetics 2014;31(6):733-736
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify mutations of dystrophin gene in a Chinese pedigree affected with Duchenne muscular dystrophy (DMD).
METHODSClinical data from the pedigree was collected. Subsequently, polymerase chain reaction and DNA sequencing analysis were applied to detect the potential mutations. Restriction enzyme digestion was carried out to determine whether the mutation was present in 118 healthy controls. Clustal software was applied for analyzing the conservation of altered amino acids.
RESULTSDNA sequencing analysis has identified a heterozygous missense mutation c.7578G>C (p.Gln2526His) mutation in exon 52 of the dystrophin gene in the proband and his mother. The same mutation was absent in the 118 healthy controls. Restriction enzyme digestion has confirmed above result. Clustal analysis indicated that the altered amino acid is highly conserved in mammals.
CONCLUSIONThe results revealed a novel missense mutation (c.7578G>C) of the dystrophin gene in DMD patients.
