两个常染色体显性遗传寻常性鱼鳞病家系致病基因定位.pdfVIP

HEREDITAS (Beijing) 2008 7 , 30(7): 843―850 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2008.00843 1 1 1,2 1 1 1 1 1 1 龚惠勇 , 张静, 胡正茂 , 邬玲仟 , 梁德生 , 谢志国 , 潘乾 , 卜枫啸, 彭聿 , 夏 1,2 1 昆 , 夏家辉 1. , 410078; 2. , 410078 : 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。 : 寻常性鱼鳞病; 微卫星标记; 连锁分析 Mapping of pathogenic genes in two families with auto- somal dominant ichthyosis vulgaris 1 1 1,2 1 1 GONG Hui-Yong , ZHANG Jing , HU Zheng-Mao , WU Ling-Qian , LIANG De-Sheng , 1 1 1 1 1,2 1 XIE Zhi-Guo , PAN Qian , BU Feng-Xiao , PENG Yu , XIA Kun , XIA Jia-Hui 1. National Laboratory of Medical Genetics, Central South University, Changsha 410078, China; 2. School of Biological Science and Technology, Central South University, Changsha 410078, China Abstract: To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vul- garis 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 vulgaris loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgaris was located near D1S498