一先天性秃发家系HR和CDSN基因突变的筛查  

The mutation analysis for HR and CDSN gene in a congenital alopecia family

作　　者：刘晨帆[1] 宋亚丽[1] 宋怀东[2] 陈漪[2] 盛燕[2] 潘春明[2] 张莉[1] 

机构地区：[1]山东大学山东省立医院皮肤性病科,济南250021 [2]上海第二医科大学附属瑞金医院医学基因组学国家重点实验室

出　　处：《中国麻风皮肤病杂志》2005年第8期591-594,共4页China Journal of Leprosy and Skin Diseases

摘　　要：目的:对山东省一5代30人的先天性秃发家系进行HR、CDSN基因的突变筛查,以期寻找致病基因。方法:收集家系成员的临床资料及血液样本,抽提外周血基因组DNA,进行PCR扩增,采用虾碱性磷酸酶及核酸外切酶对扩增产物进行纯化,然后用ABIPRISM3700自动测序仪进行测序,最后用Autoassembler软件与基因组序列对比,查找有无突变。结果:未发现突变,但找到12个多态位点,其中11个是首次发现。结论:HR、CDSN基因可能与本先天性秃发家系无关。Objective： To identify the mutation of HR gene and CDSN gene in a five - generation family with congenital alopecia including 30 family members in Shandong Province, Methods： The pedigree members＇ clinical data and blood samples were collected, Afterwards the genomic DNA was extracted. And then the PCR amplification was performed, The products were purified with shrimp alkaline and exonuclease and sequenced by ABI PRISM 3700 DNA analyzer. Finally, the mutation analysis was processed by autoassembler software, Results： The mutation of HR gene and CDSN gene wash＇ t discovered and 12 foci of polymorphism were found in this pedigree including 11 novel foei. Conclusion： HR genc and CDSN gene may be not responsible for this congenital alopecia pedigree.

关 键 词：先天性秃发 HR基因 CDSN基因 突变 基因突变 家系成员 HR 筛查 基因组DNA 自动测序 

分 类 号：R758.71[医药卫生—皮肤病学与性病学] R734.2[医药卫生—临床医学]