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NLRP7基因突变葡萄胎患者的NLRP7蛋白，caspase-1蛋白及IL-1b因子表达研究
The Study of NLRP7, Caspase-1 and IL-1β Expression of NLRP7 Gene Mutation in Hydatidiform Mole(HM) Patient
【作者】 周薇；
【导师】 钱建华；
【作者基本信息】 浙江大学 ， 妇产科学， 2011， 硕士
【摘要】 背景通过对家族性复发性葡萄胎的研究发现导致葡萄胎的基因为NLRP7基因,其可能通过对炎症通路的影响导致其发发生,但具体机制尚未明确。研究目的本研究通过对NLPR7基因突变患者和正常对照妇女的外周血淋巴细胞培养,检测其NLRP7蛋白,caspase-1蛋白和IL-1β细胞因子的表达情况,间接检测NLRP7基因突变者是否会引起功能功能障碍导致Casepase-1依赖的IL-1β的分泌异常。材料与方法通过大样本的NLRP7基因定位测序,选取基因突变患者4例,同时选择生育结局良好并且无不良生育史的妇女4例作为对照。抽取其外周血15-20ml,分离淋巴细胞经行培养,分别对患者组和对照组经行LPS刺激,收集培养上液经行IL-1p测定,收集细胞采用Western Blotting方法测定NLRP7蛋白及caspase-1蛋白表达情况,并对2组经行比较。结果(1)实验组(A组)：在LPS刺激下,除A4外,NLRP7蛋白和caspase-1蛋白表达成反向趋势,IL-1β因子表达量均降低。(2)对照组(B组)：在LPS刺激下,除B2外,NLRP7蛋白和caspase-1蛋白表达成正向趋势,IL-1β因子表达量均升高。(3)实验组(A组)出现40kd的Caspase-1蛋白表达,对照组(B组)未见明显表达。结论NLRP7基因突变者可能引起NLRP7蛋白表达异常,进而引起Caspase-1蛋白表达异常，进一步对Caspase-1依赖的IL-1β因子的分泌引起异常,可能导致是葡萄胎的产生的一个途径。
【Abstract】 BackgroundIt is presume that the cause of recurrent hydatidiform mole is NLRP7 gene by studying familial hydatidiform mole. Its possible mechanism is thought as inflammation pathway but it is not sure yet.ObjectiveThis research was detecting NLRP7 protein, caspase-1 and expression of cytokines IL-1βby peripheral blood lymphocytes culture of the NLPR7 gene mutations women and normal control of women.Materials and methodsThrough large sample NLRP7 gene sequencing, select 4 cases of gene mutations in patients, as well as choice 4 cases of women as a control whose growth history is normal with no adverse reproductive outcomes. The major process is taking their peripheral blood 15-20ml, lymphocytes culturing respectively by LPS stimulation. collecting culture fluid for the determination of IL-1 beta, collecting cells to Western Blotting for determination of NLRP7 and Caspase-1 protein expression and comparing the 2 groups.Results(1) the experimental group (group A):Without A4, stimulated by LPS, NLRP7 protein and Caspase-1 protein in a reverse trend, expression of IL-1 beta factor are reduced.(2) the control group (Group B):Without B2, stimulated by LPS, NLRP7 and Caspase-1 protein expression of a positive trend, expression of IL-1 beta factor is increased.(3) 40kd Caspase-1 protein expression occurs in the experimental group (group A), but the control group (Group B) has not been expression.ConclusionsNLRP7 gene mutations may cause NLRP7, Caspase-1 protein and IL-1βabnormal expression, and may has a certain impact on the hydatidiform mole by immunology mechanism.