摘要
目的对2例遗传性对称性色素异常症(DSH)家系DSRAD基因中可能存在的突变进行鉴定。方法收集的两个遗传性对称性色素异常症家系和100份无亲缘关系正常人外周血标本,采用聚合酶链反应(PCR)方法扩增DSRAD基因的全部外显子并测序,结果和Genbank中相应序列进行比对。结果家系1中所有患者DSRAD基因检测到第9外显子存在一个旧的错义突变c.G2747A,导致p.R916Q;在家系2所有患者第12外显子发现一个新的错义突变c.C3124T,导致p.R1042C。两家系中正常人及无亲缘关系对照均未发现突变。结论两家系中均存在DSRAD基因的变异,导致编码蛋白的结构和功能发生改变。
Objective To detect the mutations of the DSRAD gene in two families with DSH. Methods Peripheral blood from two families with DSH and 100 normal healthy Chinese were extracted and used to amplify all exons of the DSRAD gene and sequence by PCR, comparing the results with the sequences from the Genebank. Results Two missense mutations （c. G2747A and c. C3124T, the latter is novel） were identified in two families, which were not found in unaffected members in families and the control. Conclusion Two mutations in the DSRAD gene were identified in two DSH families, and they may result in the alteration of the structure and function of the DSRAD.
出处
《中国皮肤性病学杂志》
CAS
北大核心
2011年第1期27-29,共3页
The Chinese Journal of Dermatovenereology
基金
国家自然科学基金资助项目(30800991)
