精神分裂症与8个短串连重复序列基因座遗传多态性的关联性研究

摘要

目的：探讨精神分裂症与8个短串连重复序列（ short tandem repeats，STR）基因座遗传多态性的关联性。方法以50位精神病专科医院住院患者为观察组，以150份正常人无关个体血液样本为对照组。采用PCR－STR复合扩增和毛细管电泳自动化检测技术检测观察组和对照组血样8个STR基因座遗传多态分布。用SPSS软件对数据进行分析，观察精神分裂症观察组和对照组相比是否有显著性差异，并对有显著性差异的基因位点进行相对危险度分析。用吻合度检验法验证观察组的Hardy－Weinberg平衡。结果在8个被检STR基因座中有6个基因位点在精神分裂症观察组与对照组之间差异有显著性意义（ P ＜0．05），其中 D7S820－11、D19S433－14．2、D19S433－15的频率低于对照组，危险度RR＜1。 TH01－7、D19S433－13、D19S433－15．2的频率高于对照组，危险度RR＞1。8个STR基因座各基因型的观察值符合Hardy－Weinberg平衡。结论 D7S820－11、D19S433－14．2、D19S433－15可能与抑制精神分裂症发生具有一定的关系，而TH01－7、D19S433－13、D19S433－15．2可能与导致精神分裂症发生具有一定的关系。%Objective To explore the association of schizophrenia with genetic polymorphism presented by 8 short tandem repeats loci.Methods Fifty blood samples of hospitalized patients in special hospital in mental diseases constituted the ob-servation group.One hundred and fifty blood samples of normal persons who had no obvious mental and body diseases from the Dalian Blood Center constituted the control group.The distribution of genetic polymorphism presented by total 8 STR lo-ci from observation and control groups were tested by multiplexing PCR-STR, capillary electrophoresis automatic detec-tion.The software SPSS was used to analyze data for difference between schizophrenia observation group and control group and the association of schizophrenia with genetic polymorphism presented by 8 STR loci.The relative risk of obvious differ-ence genetic loci was calculated.Hardy-Weinberg equilibrium of the observation group was verified with the goodness of fit test.Results The result of test for genetic polymorphism presented showed that 6 STR allele of the schizophrenia observa-tion group were obviously different (P<0.05) from those of the control group.The frequencies of D7S820-11,D19S433-14.2 and D19S433-15 were lower than those of the control group and the relative risk was less than 1.The frequencies of TH01-7, D19S433-13 and D19S433-15.2 were higher than those of the control group and the relative risk were greater than 1.The observation value of each genotype of 8 STR loci was well fit with Hardy-Weinberg theoretical expecta-tion.Conclusion D7S820-11, D19S433-14.2 and D19S433-15 could have a certain relationship with suppression of schizophrenia, while TH01-7, D19S433 -13 and D19S433 -15.2 could have a certain relationship with initiation of schizophrenia.