Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH).</p><p><b>METHODS</b>A pedigree of DSH was investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as control. Through CBMdisc and PubMed, the mutations of ADAR gene were summarized.</p><p><b>RESULTS</b>A novel mutation of c.2447G > A was found in all patients with DSH, but was not found in normal individuals in this DSH family and 50 unrelated controls. There were 64 mutations in ADAR gene.</p><p><b>CONCLUSION</b>A deletion mutation (c.2447G > A) in the ADAR gene has been detected in this DSH family, which is probably one of the molecular bases of the pathogenesis of the disease. Author have summarized a total of 64 mutations in the ADAR gene by previous reports and speculate that the mutation hotspots of ADAR gene might be located in the tRNA-specific and double-stranded RNA adenosine deaminase (ADEAMc) domain.</p>