毛囊闭锁三联征一家系致病基因定位研究-第三军医大学学报.docVIP

毛囊闭锁三联征伴Dowling-Degos病一家系致病基因定位研究 杨建强1,2 高敏 周伏圣 王培光 徐生新 徐薇3 张学军 杨森浙江湖州师范学院医学院 浙江 湖州 313000安徽医科大学皮肤病研究所 安徽医科大学第一附属医院皮肤科 安徽医科大学皮肤性病学系 教育部 “重要遗传病基因资源利用”重点实验室（省部共建） 安徽 合肥 230032 3 首都医科大学附属北京友谊医院皮肤科 北京 100050 【摘要】 目的　对1例4代毛囊闭锁三联征家系进行致病基因连锁分析定位研究。方法　应用覆盖1p21.1-1q25.3区域的12个微卫星标记对该家系进行基因分型和连锁分析。结果　在1号染色体上的微卫星标记获得小于-2的LOD值重组率θ=0.00。结论　该家系与1p21.1-1q25.3区域不存在连锁，毛囊闭锁三联征可能存在遗传异质性。 【关键词】毛囊闭锁三联征；化脓性汗腺炎；逆向性痤疮；基因定位；连锁分析 Linkage analysis of a Follicular Occlusion Triad Coexistent with Dowling-Degos Disease Family Yang Jianqiang1,2, Gao Min2, Zhou Fusheng2, Wang Peiguang2, Xu Shengxin2, Xu Wei3, Zhang Xuejun2, Yang Sen2 1. Medical School of Huzhou Teachers College, Huzhou, Zhejiang 313000, China 2.Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, Anhui 230022, China; The Key Laboratory of Gene Resource Utilization for Severe Diseases, Ministry of Education and Anhui Province, Hefei, Anhui 230032, China; Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui 230032, China. 3. Department of Dermatology, Beijing Friendship Hospital Affiliated to Capital University of Medical Sciences, Beijing, 100050, China 【Abstract】Objective To verify the pathogenesis locus previously reported for follicular occlusion triad in a Chinese family. Methods　Two-point linkage analysis was performed with 12 microsatellite markers at chromosome 1p21.1-1q25.3 using Linkage program. Results　The cumulative maximum two-point LOD score obtained were below -2 at 1p21.1-1q25.3 (at recombination fraction = 0.00). Conclusion　The previously reported locus at 1p21.1-1q25.361.8 cM) for follicular occlusion triad is excluded in this family. This study indicates that follicular occlusion triad is a genetically heterogeneous disorder. 【Key words】follicular occlusion triad; hidradenitis suppurativa; acne inversa; gene mapping; linkage analysis 基金项目：国家自然科学基金项目（编号 毛囊闭锁三联征（Follicular Occlusion Triad，FOT，OMIM：%142690）包括化脓性汗腺炎（H