遗传性对称性色素异常症:一例家系报道及DSRAD基因突变的研究  

Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria

作　　者：崔勇[1] 王军[2] 杨森[1] 高敏[1] 陈建军[1] 严开林[1] 肖风丽[1] 黄薇 张学军[1] 

机构地区：[1]安徽医科大学皮肤病研究所,安徽合肥230022 [2]皖南医学院附属弋矶山医院皮肤性病科,安徽芜湖241000 [3]国家人类基因组南方研究中心,上海200000

出　　处：《食品与药品》2005年第11A期46-49,共4页Food and Drug

基　　金：国家"863"计划资助课题(2001AA227031;2001AA224021;2002BA711A10)

摘　　要：目的报道1例遗传性对称性色素异常症家系,并对家系成员的DSRAD基因突变进行检测。方法PCR扩增该家系患者和健康对照个体DSRAD基因的全部外显子,并进行DNA测序,以100例无亲缘关系的正常人作对照。结果该家系患者DSRAD基因的第14外显子3388碱基发生了一个T→C的杂合突变,导致第1130位半胱氨酸被精氨酸替代,该区域可能存在DSRAD基因的脱氨基酶。家系中健康对照个体及无亲缘关系的正常人均未发现该突变。结论该遗传性对称性色素异常症家系中存在DSRAD基因的特异性突变,该突变引起编码蛋白功能缺陷,导致出现皮肤色素异常的临床表型。Objectives To study a three-generation Chinese pedigree with DSH and examine the DSRAD gene mutations in this family.by direct sequencing. Methods All exons of DSRAD gene were analyzed in all indiveduals of this family with PCR and DNA sequencing. DNA samples from 100 unrelated, normal individuals were also included as control. Results The authors identified a novel heterozygous nucleotide T → C transition at position 3388 in exon 14 of the DSRAD gene which induce C1130R change in the putative deaminase domain of DSRAD. Conclusions Dyschromatosis symmetrica hereditaria （DSH） is an autosomal dominant skin disorder that is characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations are identified in the DSRAD gene in Japanese DSH patients.This study expanded the database on the DSRAD gene mutations in DSH and enriched the knowledge about the function of DSRAD.

关 键 词：遗传性对称性色素异常症 DSRAD基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]