Title: A Mutation in ADAR Gene in a Pedigree with Dyschromatosis Symmetrical Hereditaria
Abstract: Objective To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria. Methods Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation scanning was carried out by PCR and direct sequencing. Results A heterozygous nucleotide A→G transition at position 2879 in exonlO of ADAR was detected in this family, but not found in the normal individuals of the family or 150 unrelated individuals. Conclusion A missense mutation (2879 A→G) in ADAR gene is detected in the DSH family, which is probably one of the molecular bases of the pathogenesis of the disease.
Publication Year: 2005
Publication Date: 2005-01-01
Language: en
Type: article
Access and Citation
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot