[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].
Copyright policy )[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].
To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.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.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.The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.
- Wannan Medical College China (People's Republic of)
- First Affiliated Hospital of Wannan Medical College China (People's Republic of)
Adult, Male, China, Base Sequence, Adenosine Deaminase, DNA Mutational Analysis, Molecular Sequence Data, RNA-Binding Proteins, Exons, Pedigree, Humans, Point Mutation, Female, Child, Frameshift Mutation, Pigmentation Disorders
Adult, Male, China, Base Sequence, Adenosine Deaminase, DNA Mutational Analysis, Molecular Sequence Data, RNA-Binding Proteins, Exons, Pedigree, Humans, Point Mutation, Female, Child, Frameshift Mutation, Pigmentation Disorders
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