Abstract:

Abstract:Objective To identify the locus and explore the pathogenesis of follicular occlusion triad by the linkage analysis in a four-generation follicular occlusion triad family. Methods The peripheral blood samples from all of members in this family were collected and genomic DNA was extracted,all of exons and intron-exon boundaries of KRT5 gene were sequenced. Two-point linkage analysis was performed with 12 microsatellite markers at chromosome 1p21.1-1q25.3 using linkage program (5.2 Version). Results No causative mutations were identified in the KRT5 gene and the cumulative maximum two-point LOD score  were obtained below －2 at 1p21.1-1q25.3 (at recombination fraction=0.00). Conclusion The previously reported locus at 1p21.1-1q25.3 (61.8 cM) for follicular occlusion triad coexisted with Dowling-Degos disease is excluded in this family. This study indicates that follicular occlusion triad is likely a genetically heterogeneous disorder.

Key words: follicular occlusion triad;hidradenitis suppurativa;acne vulgaris;gene mapping;linkage analysis