遗传性对称性色素异常症一家系ADAR1基因新突变

摘要

目的:确定一遗传性对称性色素异常症家系ADAR1基因的突变位点.方法:提取家系中2例患者、2名表型正常者及50名与本家系无关的正常对照外周血DNA,采用PCR技术扩增ADAR1基因所有编码区并进行测序.结果:该家系中2例患者均存在ADAR1基因错义突变(c.662C>T),导致p.P211R改变,家系中2名未患病的个体和50名健康对照均未发现上述突变.结论:ADAR1基因c.662C>T错义突变是导致该家系发生DSH的致病性突变,在国内外属首次报道.%Objective:To identify the mutation of ADAR1 gene in a family with dyschromatosis symmetrical hereditaria (DSH).Methods:Genomic DNA was extracted from the peripheral blood of the family members (including 2 patients and 2 unaffected members) and 50 healthy controls.All the exons of ADAR1 gene and their flanking intronic sequences were amplified by PCR and direct sequencing was performed to screen the mutations in gene.Results:A missense mutation (c.662C>T) in ADAR1 gene was identified in the two patients and none mutation was found in 2 normal family members and healthy controls.Conclusion:The missense mutation (c.662C>T) in the ADAR1 gene probably underlies the DSH in this family,which is the first report in the date base.