Abstract：
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease. In this study, we aimed to assess chromosomal DNA damage and cell proliferation by using cytokinesis-block micronucleus cytome (CBMN-cyt) assay in the peripheral blood lymphocytes of untreated FMF patients carrying M694V and R202Q mutations, which are the most common MEFV gene mutations in Turkish society. The study included 20 untreated FMF patients with M694V and R202Q mutations and 20 healthy individuals of similar age and sex as the control group. Micronucleus (MN), nucleoplasmic bridges (NPBs), and nuclear buds (NBUDs) were scored in the obtained bi-nucleated (BN) cells. Additionally, the nuclear division index (NDI) was calculated using the scores of mononuclear, binuclear, and multinuclear cells. We found that MN and NPBs frequencies in FMF patients were significantly higher than in controls, and number of metaphases was significantly lower (respectively, p < 0.05, p < 0.01, and p < 0.01). However, there was no significant difference in NBUDs frequencies and NDI values between FMF patients and controls (p > 0.05). Our study is the first to evaluate FMF patients\' lymphocytes using the CBMN-cyt assay, as no previous research has been found in this respect. Increased MN and NPB frequencies may be useful as biomarkers for chromosomal DNA damage, and may indicate a potential for elevated cancer risk in untreated FMF patients.
摘要：
家族性地中海热(FMF)是一种遗传性自身炎性疾病。在这项研究中,我们的目的是通过在携带M694V和R202Q突变的未经治疗的FMF患者的外周血淋巴细胞中使用胞质分裂阻断微核细胞（CBMN-cyt）测定来评估染色体DNA损伤和细胞增殖，这是土耳其社会中最常见的MEFV基因突变。该研究包括20名未经治疗的具有M694V和R202Q突变的FMF患者以及20名与对照组年龄和性别相似的健康个体。微核(MN),核质桥（NPBs），在获得的双核(BN)细胞中对核芽(NBUD)进行评分。此外,核分裂指数(NDI)是用单核分数计算的，双核,和多核细胞。我们发现FMF患者的MN和NPBs频率明显高于对照组，中期的数量显著减少(分别为p<0.05、p<0.01和p<0.01)。然而,FMF患者和对照组之间的NBUDs频率和NDI值没有显着差异（p>0.05）。我们的研究首次使用CBMN-cyt测定法评估FMF患者的淋巴细胞，因为以前没有这方面的研究。增加的MN和NPB频率可作为染色体DNA损伤的生物标志物。并且可能表明未经治疗的FMF患者癌症风险升高的可能性。
