短串联重复序列基因座与精神分裂症攻击行为的关联研究  

Association of aggressive behaviors of schizophrenia with short tandem repeats loci

作　　者：杨春[1] 巴华杰[2] 谭兴起[1] 赵汉清[1] 张书友[1] 余海鹰[1] 

机构地区：[1]解放军第102医院精神科,江苏常州213003 [2]江苏省常州市公安局刑警支队DNA实验室,213003

出　　处：《中华医学遗传学杂志》2017年第6期901-904,共4页Chinese Journal of Medical Genetics

基　　金：南京军区医学科技创新项目（2009MB113、2013MS016）

摘　　要：目的探讨精神分裂症攻击行为与短串联重复序列（short tandem repeats，STR）基因座的关联情况。方法应用PowerPlex 21 System荧光标记复合扩增体系对123例有攻击行为的精神分裂症患者与489例无攻击行为的精神分裂症患者的20个STR基因座（D3S1368、D1S1656、D6S1043、D13S317、Penta E、D16S639、D18S51、D2S1338、CSF1PO、PentaD、TH01、vWA、D21S11、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433、FGA）进行聚合酶链反应复合扩增，应用AB3500xL型基因分析系统对扩增产物进行基因分型，观察2组基因座等位基因及基因型频率的差异。结果20个STR基因座均符合Hardy-Weinberg定律（P〉0．05）；PentaD基因座等位基因及基因型频率分布在两组间的差异有统计学意义（等位基因：P=0．042；基因型：P=0．014），其余19个STR基因座等位基因和基因型频率分布在两组间的差异无统计学意义（P〉0．05）；单因素分析显示，PentaD基因座等位基因10和基因型10-12的频率分布在两组间的差异均有统计学意义（P=0．0027，P=0．0001），OR值分别为1．81（95％CI：1．22-2．67）和4．33（95％CI：1．95-9．59）。结论PentaD基因座多态性与精神分裂症攻击行为的发生可能相关联；PentaD基因座等位基因10和基因型10-12可能为精神分裂症攻击行为的发生的易感因素。Objective To assess the association of short tandem repeats （STRs） loci with aggressive behaviors of schizophrenia. Methods Blood samples from 123 schizophrenic patients with aggressive behaviors and 489 schizophrenic patients without aggressive behaviors were collected. DNA from all samples was amplified with a PowerPlex 21 system and separated by electrophoresis to determine the genotypes and allelic frequencies of 20 STR loci including D3S1368, D1S1656, D6S1043, D13S317, Penta E, D16S639, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21Sll, D7S820, D5S818, TPOX, D8Sl179, D12S391, D19S433, and FGA. Results All of the 20 STR loci have reached Hardy-Weinberg equilibrium in both groups. A significant difference was found in allelic and genotypic frequencies of loci Penta D between the two groups （alleles： P=0. 042; genotypes： P=0. 014） but not for the remaining 19 loci （P） 0.05）. Univarite analysis also showed a significant difference for allele 10 and genotypes 10-12 of Penta D between the two groups （P=0. 0027, P=0. 0001）, with the OR being 1.81 （95%CI： 1.22-2.67）and 4.33 （95%CI： 1.95-9.59）, respectively. Conclusion Penta D may be associated with aggressive behaviors of schizophrenia. Allele 10 and genotypes 10-12 of Penta D may confer a risk for the disease.

关 键 词：精神分裂症 攻击行为 短串联重复序列 遗传多态性 病例对照研究 

分 类 号：R394[医药卫生—医学遗传学] R749.3[医药卫生—基础医学]