一遗传性对称性色素异常症家系ADAR基因突变检测

Abstract

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.

Key words: Dyschromatosis symmetrical hereditaria, DNA mutational analysis, ADAR gene

LI Ming, YANG Sen, JIANG Yi-xiu, ZHANG Guo-long, WEI Sheng-cai, SUN Liang-dan, GAO Min, XU Shi-jie, HUANG Wei, ZHANG Xue-jun. A Mutation in ADAR Gene in a Pedigree with Dyschromatosis Symmetrical Hereditaria[J].Chinese Journal of Dermatology, 2005, 38(9): 551-553.

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A Mutation in ADAR Gene in a Pedigree with Dyschromatosis Symmetrical Hereditaria

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