一家系先天性秃发的基因定位  

Gene mapping for congenital alopecia

作　　者：李俊燕[1] 刘晨帆[2] 宋亚丽[1] 凌雁[1] 徐潮[3] 宋怀东[3] 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]济南市传染病医院,济南250021 [3]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,上海200000

出　　处：《中国麻风皮肤病杂志》2006年第7期555-558,共4页China Journal of Leprosy and Skin Diseases

摘　　要：目的:通过定位克隆或定位后选克隆技术识别先天性秃发的致病基因。方法:将家系成员外周血基因组DNA,利用微卫星标记技术,对文献报道过的与毛发和外胚层发育有关的5,6,7,8,17,18号染色体进行基因组扫描,采用Genescan和Genotyper软件进行基因分型,采用Linkage软件包进行连锁分析,初步确定致病基因所在的染色体的位置。结果:未发现与5,6,7,8,17,18号染色体连锁的微卫星标记。结论:先天性秃发可能具有基因异质性。Objective： To identify the gene mutation for congenital alopecia by positional cloning or positional candidate cloning technique. Methods： Genomic DNA of peripheral blood was extracted. A genome- wide scan with microsatellite markers was performed. The results were genotyped by Genescan and Genotyper software. Linkage analysis was processed by linkage software package to define the region of the disease gene. Results： Microsatellite markers linked to the chromosome 5, 6,7,8,17,18 were not identified. Conclusion： There might be genetic heterogeneity for congenital aplopecia.

关 键 词：先天性秃发 微卫星标记 基因组扫描 基因定位 连锁分析 

分 类 号：R758.71[医药卫生—皮肤病学与性病学] R587.1[医药卫生—临床医学]