Investigation And Genetic Research On A Follicular Occlusion Triad Family

Background: Follicular occlusion triad (FOT) is a common skin disease with a prevalence of 0.1/100 to 4/100 in adults and a predominance of females by a ratio of 2:1-5:1. Recent work suggests that the responsible gene (genes) of Follicular occlusion triad disease may be located in the regions of 6q25.1-25.2, D19S911-D19S1170, 1p21.1-1q25.3 and 19q13.1-19q13.2. Therefore, we speculated that there was a linkage between the locus reported and FOT, and performed a linkage analysis with a Chinese FOT kindred. The aim of this study was to investigate the sensitive region of FOT in this family and in order to propose more references to the molecular mechanisms of the disease.Methods: 19 markers that span the regions were polymerase chain reaction (PCR) amplified and sequenced with DNA samples. Linkage analysis was carried out to evaluate the evidence for linkage by use of MLINK program of LINKAGE package 6.0. Additionally, based on the structure of the family, a simulation analysis was performed at first.Results: No significant evidence was observed in the Linkage analyses with FOT as the affection status, though the simulation got an estimated probability 85.6% at the logarithm of odds (LOD) score of 2.0.Conclusions: The study supported FOT with autosomal dominant inheritance pattern. The genotype and phenotype of this family is heterogeneous. A novel locus co-segregated with F FOT may exist.