表型差异的Brooke-spiegler综合征一家系基因突变检测研究  

Diverse Phenotype of Brooke-Spiegler Syndrome Associated with a Nonsense Mutation in the CYLD Tumour Suppressor Gene

作　　者：黄一锦[1] 张国龙[2] 张益珠[1] 严开林[2] 范星[2] 孙良丹[2] 梁燕华[2] 李卉[2] 刘建军[3] 杨森[2] 张学军[2] 

机构地区：[1]福建医科大学附属厦门第一医院厦门市第一医院皮肤科,福建厦门361003 [2]安徽医科大学皮肤病研究所第一附属医院皮肤性病科,安徽合肥230022 [3]教育部重要疾病遗传资源收集与利用重点实验室,安徽合肥230032

出　　处：《中国皮肤性病学杂志》2006年第10期577-580,共4页The Chinese Journal of Dermatovenereology

基　　金：国家"863"计划课题(No.2003AA227030)

摘　　要：目的分析报道首例中国汉族B rooke-sp iegler综合征(BSS)家系中的圆柱瘤(CYLD)基因突变。方法收集家系资料并采集家系成员血样,从外周血中提取全基因组DNA,利用PCR反应扩增整个CYLD基因的编码序列,并对扩增产物进行直接测序分析。同时总结了PubM ed上2000年以来所报道的所有CYLD基因突变。结果迄今为止,共报道了33个CYLD基因的突变,笔者检测到一个过去曾报道与家族性圆柱瘤(FC)发生相关的无义突变2272C>T(R758X)。结论CYLD基因型与表型之间无一致关联性,报道的该突变可以导致中国汉族人BSS的发生。Objective To report and analyze the mutation of CYLD gene in the first reported Chinese pedigree with Brooke-Spiegler syndrome. Methods We collected a Chinese family and their blood samples. Genomic DNA was extracted from peripheral blood. The whole coding region of CYLD was amplified by polymerase chain reaction and products analyzed by direct sequencing. Moreover,we reviewed all papers about CYLD mutations reported since 2000 using PubMed. Results Up to date,a total of 33 mutations in CYLD gene have been reported. We identified a recurrent mutation 2272C 〉 T （R758X） ,which was previously identified in other ethnic families with familial cylindromatosis,in the CYLD gene in the affected individuals of this family. Conclusion Our data suggests that correlation between genotype and phenotype is lacking and this mutation could cause BSS in Chinese Han population.

关 键 词：圆柱瘤 毛发上皮瘤 突变 肿瘤抑制 

分 类 号：R739.5[医药卫生—肿瘤] R596[医药卫生—临床医学]