【摘要】 目的检测一个遗传性对称性色素异常症家系ADAR1基因是否存在突变,并分析其基因型与表现型的关系。方法进行遗传性对称性色素异常症患者家系调查,并收集其家系7名成员及100例无血缘关系正常人的外周血标本,提取DNA,应用PCR扩增ADAR1基因的全部15个外显子并进行测序。结果该家系7名成员中有5名成员存在ADAR1基因2号外显子c.1096-1097delAA缺失突变,先证者的母亲为纯合缺失突变,先证者及其妹妹、舅舅、外甥为杂合缺失突变,其中4例有不同程度的遗传性对称性色素异常症临床表现,先证者的妹妹没有任何的遗传性对称性色素异常症临床表现。结论在我国的遗传性对称性色素异常症家系中首次发现ADAR1基因c.1096-1097delAA缺失突变。更多还原

【Abstract】 Objective To detect the mutations of ADAR1 gene in a dyschromatosis symmetrica hereditaria （DSH） family and to analysis the correlation ship between genotypes and clinical phenotypes. Methods Pedigree investigation of the patient with DSH was performed and the genomic DNA was extracted from the peripheral blood samples of 7 members in the family and 100 unreleated volunteers. Regarding ADAR1 gene as the targeted gene, all 15 exons of the ADAR1 gene were amplified by PCR, and then the PCR products were sequenced. Results A two-nucleotide deletion mutation （c.1096₁097delAA） in exon 2 of ADAR1 gene was identified from 5 of 7 members in this DSH family. The mutation of ADAR1 gene in proband’s mother was homozygous and the mutation in proband as well as in his sister, uncle and cousin was heterozygous. The mutation of ADAR1 gene was not checked out from other members of the family and control individuals. Conclusion The two-nucleotide deletion mutation （c.1096₁097delAA, p.K366fsX） in exon 2 of ADAR1 gene was found firstly in Chinese family with DSH.更多还原