毛囊闭锁三联征一家系调查及基因研究

摘要

目的:确定一毛囊闭锁三联征(AI)家系的临床特点及易感位点连锁情况.方法:调查该家系临床资料,用1p21.1-1q25.3,6q25.1-25.2,D19S911-D19S1170和19q13.1-19q13.2易感基因位点附近的19个微卫星标记对该家系进行基因分型、连锁分析和单倍型分析.结果:该家系4代39人中13例患毛囊闭锁三联征,男8例,女5例,每代均有个体发病,符合常染色体显性遗传模式.经分析未发现上述位点与该家系存在连锁关系.结论:推断有新的易感位点与AI的发生有关,提示AI具有遗传异质性.%Objective: To investigate clinical characteristics and sensitive region in patiens with acne inversa (AI) of a Chinese family. Methods: The clinical findings were analized, and a linkage analysis with 19 microsatellite markers was performed at regions 1p21.1 - 1q25.3,6q25.1 - 25.2, D19S911 - D19Sl170 and 19q13.1 -19q13.2 using linkage program and haplotype in a Chinese family with AI. Results: Thirteen patients (8 males 5 females) out of 39 family members in four generations were suffering AI, suggesting autosomal dominant inheritance.No linkage with genetic regions mentioned above was found. Conclusion: The results suggest that AI is genetically heterogeneous disorder.