Objective By detecting LOXL1 gene methylation status in peripheral blood between exfoliation syndrome (XFS)patients and healthy population in Xinjiang Uygur population to clarify the changes of exfoliation syndrome LOXL1 gene methylation status and its role in the pathogenesis of XFS,which may be applied as a molecular marker for early clinical detection of Uyghur exfoliation syn-drome.Methods 64 Uyghur patients with exfoliation syndrome were collected from March 2012 to May 2013 in the first affiliated hos-pital of xinjiang medical university and the first people hospital of Kashi,and 75 cases of normal volunteers were also included.Methyla-tion -specific polymerase chain reaction (MSP)method was used to detect methylation of specimens.Results Uygur population with exfoliation syndrome LOXL1 gene methylation was 26.6% (17 /64),whereas in the normal control group,LOXL1 gene methylation was 12% (9 /75).Conclusions LOXL1 gene is an integrated genetic susceptibility genes in Uygur population with exfoliation syndrome. The methylation levels of LOXL1 gene promoter were significantly higher in XFS patients and it may be associated with the onset of ex-foliation syndrome.%目的：通过检测新疆维吾尔族剥脱综合征（exfoliation syndrome，XFS）患者和正常健康人群外周血 LOXL1基因甲基化状态，明确 XFS 患者外周血中 LOXL1基因甲基化状态改变并参与 XFS 的发病机制，探讨其是否可作为一个分子指标应用于维吾尔族 XFS 的早期临床检测。方法收集2012年3月—2013年5月新疆喀什地区、库车地区及该院眼科住院治疗的维吾尔族 XFS 患者64例，并选取生活背景、性别、年龄相匹配的正常维吾尔族人群75例健康人作为对照组，应用甲基化特异性聚合酶链反应（MS －PCR）的方法对标本进行甲基化检测，判断 LOXL1基因甲基化水平。结果维吾尔族剥脱综合征患者 LOXL1基因甲基化率为26．6％（17／64）；而维吾尔族正常对照组 LOXL1基因甲基化率为12％（9／75）。结论LOXL1基因是维吾尔族剥脱综合征患者的遗传易感基因，XFS 患者外周血 LOXL1基因启动子区的甲基化水平明显高于对照组，其甲基化状态的改变可能与剥脱综合征的发病相关。
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