节点文献
中国皮肤遗传病研究现状
Research Status of Genodermatoses in China
【摘要】 目前因遗传导致的皮肤病有300多种,其中170多种单基因皮肤病已确定致病基因,近100多种单基因皮肤病和多基因皮肤病已经基因定位。近几年来我国皮肤遗传病研究也取得了飞速发展,如发现家族性多发性毛发上皮瘤和原发性红斑肢痛症的致病基因,成功进行了汉族人群银屑病和白癜风易感基因的定位,为搜寻其易感基因奠定了坚实基础。
【Abstract】 Among over 300 genodernatoses, causative genes have been identified in 170 monogenetic diseases, while gene mapping has been performed in over 100 monogenetic and polygenctic skin diseases. Researches in genodermatoses has rapidly advanced in China in recent ten years. The causative genes involved in multiple familial trichoepithelioma and primary erythermalgia have been found. Two indepen- dent genome-wide scans with DNA markers have been performed to detect genetic linkage related to psoriasis and vitiligo. In this review article, we summarize these most recent findings.
【Key words】 genodermatoses; monogenic disease; polygenic diseases; gene;
- 【文献出处】 中国医学科学院学报 ,Acta Academiae Medicinae Sinicae , 编辑部邮箱 ,2005年03期
- 【分类号】R758.5
- 【被引频次】12
- 【下载频次】487