遗传性对称性色素异常症两家系基因突变检测研究

Analysis on the mutations of ADAR gene in two pedigrees with dyschromatosis symmetrica hereditaria

目的:检测遗传性对称性色素异常症患者家系中腺苷脱氨酶(ADAR)基因的突变。方法:收集2个遗传性对称性色素异常症患者家系的临床资料,采用聚合酶链反应及直接测序法对家系内成员ADAR基因突变位点进行检测,同时对50名无血缘关系健康对照者的该位点进行直接测序。结果:在2个家系的患者中分别检测到2个不同的ADAR基因移码突变位点c.633insT和c.2742delC,而在家系内非患者及正常对照者中均未发现该2个突变。结论:该研究中2个遗传性对称性色素异常症家系中的患者存在ADAR基因的移码突变,且皆为首次报道。

Objective： To identify the mutations of ADAR （adenosine deaminase acting on RNA） gene in patients with dyschromatosis symmetrica hereditaria （DSH）. Methods： Two pedigrees of DSH were investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as controls. Results： Two novel frameshift mutations of c. 633insT and c.2742delC were found in all patients of the two pedigrees with DSH, but not found in normal individuals in the two DSH families and 50 unrelated healthy controls. Conclusions： Two frameshift mtations are found in the two Chinese DSH families, and both of them are firstly reported.