中文摘要：

目的探讨细胞凋亡清除障碍及Fen1基因变异在狼疮性肾炎（Lupusnephritis，LN）发病机制中的作用。方法首先收集30例LN患者肾穿刺石蜡包埋组织用TUNEL法检测细胞凋亡，探讨LN病理分型、SLE活动指数2000（SLEDAI2000）与肾脏组织细胞凋亡指数（AI）的关系。其次，收集50例LN患者，25例健康者，20例胃癌患者的外周血标本，采用全血基因组DNA柱式试剂盒提取DNA．筑巢PCR扩增Fenl基因61563142～61563342目的片段，扩增后的目的基因进行测序，并对测序结果与基因数据库中人Fen1基因进行比较，计算突变位点频率，进行矿检验，比较LN患者、胃癌、健康者Fen1基因突变情况。结果①所有患者肾组织凋亡检测均为阳性，凋亡细胞在肾小球及肾小管均呈散在分布，SLEDAI与其AI呈正相关（0〈R〈1，P〈0．05）。根据ISN／RPS2003制定的病理分型标准，30例患者中，病理类型以弥漫性（Ⅳ型）最多，占40．00％，其次是系膜增生性（Ⅱ型），占26．67％，局灶性（Ⅲ型）16．67％，膜性（V型）0．13％，终末硬化性（Ⅵ型）0.03％，无轻微痛变性（I型）。②三组Fen／基因61563142-61563342目的片段未发现有统计学意义的碱基变异。结论LN患者存在细胞凋亡清除障碍．凋亡细胞的数量越多．SLE病情越活动；Fenl基因61563142~61563342目的片段在LN患者中未发现碱基变异，Fenl基因在LN的作用尚需要扩大样本量进行观察，或进行该基因的全基因组关联研究进一步证实。

英文摘要：

Objective The aim of our study was to estimate the role of cell apoptosis imbalance and Fenl gene mutation in the pathogenesis of lupus nephritis. Methods 30 paraffin organizations from renal biopsy of patients with LN was used TUNEL method to detect the cell apoptosis, the relation of LN pathology classification, SLE activity index 2000 （SLEDAI 2000） and kidney tissue cell apoptosis index （AI） was discussed.We analyzed Fenl gene 61563142-61563342 by extraction of genomic DNA from the peripheral blood of 50 LN patients,25 healthy individuals and 20 patients with cancer of the stomach and performed genotyping using DNA sequencing.Results （~）There was diffused apoptosis identified in all samples of 30 LN patients （LN IV40.0%, LN I1 26.67%, LN Ⅲ 16.67%, LN V0.13% and LN type0 01%）, correlation analysis showed that SLEDAI was significantly correlated with apoptosis index （0 〈R〈1, P〈0.05）. ②Fenl gene 61563142-61563342 was not significant difference between LN patients, healthy controls and patients with stomachcancer.Conelusion Cell apoptosis dysfunction plays a key role in the pathogenesis of LN, although Fenl gene 61563142-61563342 was not found significant difference in LN patients, larger sample or Genome-Wide Association Studies was needed.