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胡颖, 鞠桂芝, 刘树铮, 史杰萍, 于雅琴, 尉军. 人类13q32精神分裂症易感基因的研究[J]. 中国公共卫生, 2004, 20(4): 392-394.
引用本文: 胡颖, 鞠桂芝, 刘树铮, 史杰萍, 于雅琴, 尉军. 人类13q32精神分裂症易感基因的研究[J]. 中国公共卫生, 2004, 20(4): 392-394.
HU Ying, JU Gui-zhi, LIU Shu-zheng, . Study on schizophrenia susceptibility genes ochromosome 13q32[J]. Chinese Journal of Public Health, 2004, 20(4): 392-394.
Citation: HU Ying, JU Gui-zhi, LIU Shu-zheng, . Study on schizophrenia susceptibility genes ochromosome 13q32[J]. Chinese Journal of Public Health, 2004, 20(4): 392-394.

人类13q32精神分裂症易感基因的研究

Study on schizophrenia susceptibility genes ochromosome 13q32

  • 摘要:
      目的   在中国人群中探讨人类13q32区域内与精神分裂症相关的易感基因位点。
      方法   以中国汉族精神分裂症患者和他们的健康父母双亲组成的91个核心家系为研究对象。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法对13q32区域内分别位于STK24位点和GPC6位点上的2个单核苷酸多态性(SNPs)rs1886089和rs2892679进行检测。利用拟合优度卡方检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律, 单体型相对风险分析(HRR)和传递不平衡检验(TDT)用于数据基因型分析。
      结果   (1) STK24/GPC6基因型频率分布符合Hardy-Weinberg平衡(P > 0.05);(2)HRR结果显示, rs1886089和rs2892679两个基因多态性与精神分裂症无关联(P > 0.05)。TDT结果表明, 父母和受累子女之间不存在显著的传递不平衡(P > 0.05), 即杂合父母传递给受累子女的等位基因无差异; (3)STK24rs1886089等位基因与精神分裂症的两种临床症状真性幻听和情感淡漠相关(χ2=6.005df=1P < 0.05;χ2=6.074df=2P < 0.05)。GPC6rs2892679等位基因与精神分裂症的思维贫乏相关(χ2=6.094df=2P < 0.05)。
      结论   STK24rs1886089和GPC6rs2892679基因多态性与精神分裂症的3种临床症状相关联

     

    Abstract:
      Objective   To investigate gene association with schizophrenia within 13q32 in a Chinese population.
      Methods   Two single nucleot ide poly morphisms(SNPs), rs1886089 at the STK24 locus and rs2892679 at the GPC6 loucs were genotyped in 91 Chinese Han core families consisting of fathers, mothers and affected offspring with schizophrenia.These 2 SNPs were detected with the PCR-based restriction fragment length poly mor phism(RFLP)analysis.The Hardy-Weinber gequilibrium for genotype frequency distributions was estimated by the goodness-of-fit test.The transmission disequilibrium test(TDT)and the haplotype relative risk(HRR)test were applied to process genotyping data.
      Results   The genotype frequency distributions of both rs1886089 and rs2892679 were in the Hardy-Weinberg equilibrium(P > 0.05);neither the HRR test nor the TDT analysis showed a genetic association between the two SNPs and schizophrenia; however, rs1886089 was associated with two of clinical symptoms(genuine auditory hallucination and apathy)(χ2=6.005 df=1 P < 0.05;χ2=6.074 df=2 P < 0.05).GPC6 rs2892679 alleles showed association with poverty of thought(χ2=6.094 df=2 P < 0.05).Aapthy and poverty of thought were two negative symptoms of schizophrenia.
      Conclusion   STK24 rs1886089 and GPC6 rs2892679 were associated with three clinical symptoms of schizophrenia.More work should be done about the relation between STK24/GPC6 genes and schizophrenia.

     

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