两个常染色体显性遗传寻常性鱼鳞病家系致病基因的定位  

Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris

作　　者：龚惠勇[1] 张静[1] 胡正茂[1] 邬玲仟[1] 梁德生[1] 谢志国[1] 潘乾[1] 卜枫啸[1] 彭聿[1] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《遗传》2008年第7期843-850,共8页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:30630062,30600247);国家重点基础研究发展规划(973计划)项目(编号:2004CB518601)资助~~

摘　　要：为了对寻常性鱼鳞病的致病基因进行定位,收集了2个湖南寻常性鱼鳞病家系,采集外周血,提取基因组DNA,采用1号染色体和10号染色体上2个已知寻常性鱼鳞病位点的微卫星标记对这两个家系进行基因分型和连锁分析。结果显示,寻常性鱼鳞病家系1的致病基因位于D1S498(1q21)附近,与已知定位区间重叠;寻常性鱼鳞病家系2的致病基因位点与已知的寻常性鱼鳞病位点不连锁,可能存在新的致病基因位点。To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vulgads families from Hunan Province. Venous blood samples were collected from affected and unaffected family members and genomic DNA was extracted. We then performed genome scan and linkage analysis using microsatellite markers around known ichthyosis vulgads loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgads was located near DIS498 （lq21）, which overlapped with known ichthyosis vulgaris loci. In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified.

关 键 词：寻常性鱼鳞病 微卫星标记 连锁分析 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]