文献简介

出版社:

作  者:Ayten Yazici , Ayse CeXe , Hakan Savli

编  号:10.1007/s00296-011-2011-y

关键字:Behçet’s disease ; Familial Mediterranean fever ; MEFV gene ·;Vasculitis

年  份:2012   点击量:868

文献摘要

     Investigation of the relation between MEFV gene mutations and clinical Wndings of Behçet’s disease.Genetic features of 100 patients with Behçet’s disease (BD) and 100 healthy controls were analyzed. None of the individuals had a family history of FMF in the patient and control group, and none of the individuals in the control group had a family history of BD. MEFV gene analysis was performed in all the patients with BD and healthy controls;twelve diVerent regions were scanned. In the BD group,mutations were detected in more than one region in 27 patients (27%). Twenty-Wve patients had heterozygous and two patients had compound heterozygous mutations (M680I-V726A and M694 V-A744S). The most frequent mutation was M694 V with an allelic frequency of 5%. The allelic frequencies of E148Q, M680I (G/C), and V726A
were 3, 2, and 2%, respectively. The allelic frequencies of P369S, A744S, and K695R were 1, 1, and 0.5%. MEFV gene analysis revealed mutations in 27 (27%) of the individuals in the control group; the allelic frequency was 14%.The most frequent mutation was E148Q that was detected in 16 individuals. One individual was compound heterozygote (E148Q-M694 V). The allelic frequencies of E148Q, M694 V, V726A, and M680I were 8, 3, 1.5, and 0.5%,respectively. The allelic frequencies of K695R and P369S were 0.5 and 0.5%, respectively. The allelic frequency wassimilar in the two groups. There was not a signiWcant relation between the mutations in the BD group and clinical Wndings.