遗传性对称性色素异常症一个家系DSRAD基因突变分析  

Mutation analysis of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.

作　　者：易恒安 李敏[1] 邱玉芬[1] 

机构地区：[1]深圳市龙岗区横岗人民医院皮肤科,广东深圳518115

出　　处：《海南医学》2013年第9期1266-1267,共2页Hainan Medical Journal

摘　　要：目的对遗传性对称性色素异常症一个家系DSRAD基因突变进行检测,以期寻找到新的致病突变。方法收集一患有遗传性对称性色素异常症家系,该家系除了有典型的皮疹外,身体发育、智力均正常,五官科及内科检查正常,无明显的系统症状,采用RT-PCR方法从人外周血中获得DSRAD基因cDNA,并筛选出合适的基因序列与人类基因库中的相应基因进行对比分析,找出可疑的位点,并通过单链构象技术对新突变进行验证。结果该家族DSRAD基因序列的测定结果证实患者染色体中存在碱基替换的情况,患者碱基由Q389Q替换为A1167G,患者编码氨基酸并没有发生改变,仍然为谷氨基酸,属于同义突变。患者DNA经单链构象分析证实为同一家族的基因,在家族健康人及非血缘关系的人群中未发现编码基因。结论患者皮肤色素出现异常的改变可能与患者基因出现同义突变有关,但目前该突变机制的研究还有待进一步深入分析。Objective To detect the mutation ofDSRAD gene in a Chinese family with dyschromatosis sym- metrica hereditaria （DSH）, and to explore new pathogenic mutation. Methods Members of a Chinese family with DSH, who had typical rash, were enrolled in this study, with normal physical development and intelligence, no obvi- ous systematic symptoms. RT-PCR was applied to obtain DSRAD gene eDNA from human peripheral blood. Proper gene sequences were selected and compared with corresponding gene of human gene pool to identify suspicious sites, and new mutations were validated by single strand conformation. Results DSRAD gene sequence analysis con- firmed the presence of nucleotide substitutions in the patient＇s chromosomes, with Q389Q replaced by A1167G. The encoding amino acid was still glutamic acid, which indicated a synonymous mutation. Single strand conformation con- firmed that the DNA of the patients was of the same family, and that the healthy members and non-kinship members were not detected with the coding gene. Conclusion The abnormal changes of skin pigment may be due to synony- mous mutations in gene. The mutation mechanism still needs further study.

关 键 词：遗传性 对称性 色素 DSRAD基因 突变 

分 类 号：R394[医药卫生—医学遗传学]