遗传性对称性色素异常症的基因突变分析  

Mutation analysis of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria

作　　者：侯艳霞[1] 任韵清[1] 陈建军[1] 高敏[1] 周伏圣[1] 杜文辉[2] 王培光[1] 沈玉君[1] 杨森[1] 崔勇[1] 梁燕华[1] 张学军[1] 

机构地区：[1]安徽医科大学皮肤病研究所,合肥230032 [2]安徽医科大学第一附属医院皮肤科

出　　处：《安徽医科大学学报》2006年第3期294-298,共5页Acta Universitatis Medicinalis Anhui

基　　金：国家"863"计划资助课题(编号:2003AA227030)

摘　　要：目的检测遗传性对称性色素异常症(DSH)ADAR基因的突变,分析基因型与表型之间的相关性。方法调查中国安徽省汉族人的5个DSH家系、3个散发病例,用直接测序的方法对其进行ADAR基因的突变检测。结果发现了8个杂合突变,其中5个是新发现的(c.982C>T,c.1491insA,c.2568-2571delTAAC,c.2969C>G,c.3040G>T),3个是曾经报道过的(c.3203-2A>G,c.3247C>T,c.3286C>T)。结论到目前为止,共发现48个DSH的A-DAR基因突变,推测ADAR基因的突变热点可能位于ADEAMc区域。ADEAMc区域是ADAR蛋白发挥腺苷脱氨酶作用的重要区域,但目前尚未发现基因型和表型之间的明确相关性。Objective To analyze the ADAR gene mutations in Chinese patients with DSH and to explore the correlation between the genotypes and phenotypes. Methods Five families and three sporadic cases with DSH from Anhui province in Chinese Han population were investigated. The mutations of ADAR gene were detected by direct sequencing. Results Five novel ADAR gene mutations （c. 982C 〉 T, c. 1491insA, c. 2568 2571delTAAC, c. 2969C 〉 G, c. 3040G 〉 T） and three mutations previously described （ c. 3203-2A 〉 G, c. 3247C 〉 T, c. 3286C 〉 T） were identified, all of which were heterozygous. Conclusion We have summarized a total of 48 mutations in the ADAR gene with DSH by previous reports and speculated that the mutation hotspots of ADAR gene might be located in the tRNA-specific and double-stranded RNA adenosine deaminase （ADEAMc） domain. The ADEAMc domain is essential for the deaminase activity of the ADAR encoded protein.

关 键 词：色素沉着异常/遗传学 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]