精神分裂症患者MBL基因ExonI 54位密码子点突变频率与血清水平的研究  

A Study on the Mutation Frequency and Serum Concentration of MBL Gene ExonI 54 in Patients with Schizophrenia

作　　者：郭静 韩冰 侯鸾鸾 冯方波 GUO Jing;HAN Bing;HOU Luan-luan;FENG Fang-bo(Hospital 984 of PLA,Beijing 100094,China)

机构地区：[1]解放军联勤保障部队第984医院检验科

出　　处：《标记免疫分析与临床》2019年第9期1547-1551,1569,共6页Labeled Immunoassays and Clinical Medicine

摘　　要：目的探讨精神分裂症患者血清MBL水平与基因突变的相关性,了解MBL在患者免疫病理机制中的作用。方法应用ELISA法检测血清MBL水平;利用PCR产物直接测序的方法检测MBL基因外显子Ⅰ第54位密码子(MBL-54)的点突变频率。结果精神分裂症患者血清MBL水平(1367.218±1277.429ng/mL)明显低于对照组(1987.781±976.748ng/mL)(t=2.888,P=0.047)。MBL-54基因型GGC/GGC突变频率(55.77%)低于对照组(69.23%)(χ^2=2.010,P=0.224);GGC/GAC型突变频率(42.31%)高于对照组的(28.85%)(χ^2=2.298,P=0.315);GGC/GAC型的患者血清MBL水平(1034.52±529.72ng/mL)明显低于对照组(2195.81±1275.38ng/mL)(t=3.336,P=0.0039)。结论精神分裂症患者血清低水平的MBL可能与MBL-54基因型GGC/GGC突变率减低,GGC/GAC突变率升高的综合作用相关,MBL可能是患者体内CIC滞留或清除障碍的分子机制之一。Objective To investigate the correlation between serum MBL concentration and gene mutation in patients with schizophrenia,and to better understand the role of MBL in the immunopathological mechanism of patients.Methods The serum MBL concentration was detected by ELISA,and the polymorphism of fifty-fourth codon in exon I of MBL gene was detected by direct sequencing of PCR products.Results The serum MBL level(1367.218±1277.429ng/mL)in patients with schizophrenia was significantly lower than that in the control group(1987.781±976.748ng/mL)(t=2.888,P=0.047).The mutation frequency of MBL-54 genotype GGC/GGC(55.77%)was lower than the control group(69.23%)(χ^2=2.010,P=0.224).The mutation frequency of GGC/GAC(42.31%)was higher than that in the control group(28.85%)(χ^2=2.298,P=0.315).The serum MBL level of the patients with GGC/GAC(1034.52±529.72ng/mL)were significantly lower than the control group(2195.81±1275.38ng/mL)(t=3.336,P=0.0039).Conclusion The low level of MBL in patients with schizophrenia could be associated with a reduction in the mutation rate of MBL-54 genotype GGC/GGC,and the combination of GGC/GAC mutation rate.MBL can serve as one of the molecular mechanisms for the retention or removal of CIC in patients.

关 键 词：精神分裂症 甘露糖结合蛋白 血清浓度 基因变异 

分 类 号：R74[医药卫生—神经病学与精神病学]