Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 367-369, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-239468
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.</p><p><b>METHODS</b>Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.</p><p><b>RESULTS</b>A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.</p><p><b>CONCLUSION</b>The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Pigmentation Disorders
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Adenosine Deaminase
/
China
/
Exons
/
Frameshift Mutation
/
RNA-Binding Proteins
Type of study:
Diagnostic study
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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