Detection of dystrophin gene mutation in a Chinese pedigree affected with Duchenne muscular dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 733-736, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291693
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations of dystrophin gene in a Chinese pedigree affected with Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Clinical 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.</p><p><b>RESULTS</b>DNA 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.</p><p><b>CONCLUSION</b>The results revealed a novel missense mutation (c.7578G>C) of the dystrophin gene in DMD patients.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Case-Control Studies
/
China
/
Exons
/
Dystrophin
/
Amino Acid Sequence
/
Mutation, Missense
/
Muscular Dystrophy, Duchenne
Type of study:
Diagnostic study
/
Observational study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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