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COMT基因多态性与精神分裂症的相关性 被引量：1

Relationship Between the COMT Locus Polymorphism and Schizophrenia
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摘要 目的 :探讨儿茶酚氧位甲基转移酶 ( COMT)基因多态性与精神分裂症的相关性。方法 :采用限制性片段长度多态性 ( RFLP)分析方法 ,对 1 1 6个中国吉林省汉族精神分裂症核心家庭进行以家族为基础的关联研究 ,检测 COMT位点的两个单个核苷酸多态性 ( SNP1和 SNP2 )与精神分裂症的相关性。结果 :COMT位点的 2个 SNPs传递与未传递等位基因频率分布的差异无显著性 ,但 SNP1位点与精神分裂症阳性症状的关系妄想综合征密切相关。结论 :不支持 Objective: To explore the association between polymorphisms for the catechol o methyl transferase (COMT) locus and schizophrenia. Methods:The family based association studies were conducted with restriction fragment length polymorphism (RFLP) analysis to assess the association between polymorphisms for the COMT locus and schizophrenia in 116 Chinese Han population nuclear families consisting of father, mother and offspring suffered from schizophrenia. Results:No significant differences were found in the frequencies of the two SNP markers at the COMT locus. But the SNP 1 was significantly associated with positive symptoms: delusion of observation. Conclusion: The present results did not support the hypothesis that the COMT gene might play an important role in predisposing an individual to a genetic risk for schizophrenia.
作者 孙祖玥 尉军 刘树铮
机构地区 吉林大学基因组医学研究中心卫生部放射生物学重点实验室
出处 《吉林大学学报（医学版）》 CAS CSCD 北大核心 2003年第1期16-18,共3页 Journal of Jilin University：Medicine Edition
基金 国家自然科学基金资助课题 (9970 16 5 )
关键词 儿茶酚氧位甲基转移酶 精神分裂症 遗传学 基因多态性 限制性片段长度多态性 catechol o methyltransferase schizophrenia/genetics genetic polymorphism association analysis polymorphism,restriction fragment length
分类号 R749.3 [医药卫生—神经病学与精神病学]
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参考文献6

  • 1[1]Pulver AE, Karayiorgou M, Wolyniec PS, et al. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potenti al linkage on chromosome 22q12-q13.1: part 1[J]. Am J Med Genet, 1994, 54: 36-43.
  • 2[2]Ohmori O, Shinkai T, Kojima H, et al. Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophren ics[J]. Neurosci Lett, 1998, 243(1-3): 109-112.
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  • 5[5]Daniels JK, Williams NM, Williams J, et al. No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity[J]. Am J Psychiatry, 1996, 153(2): 268 -270.
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同被引文献9

  • 1颜子颖 王海林（译）.精编分子生物学实验指南[M].北京:科学出版社,1999.480-487.
  • 2Twyman RM. SNP discovery and typing technologies for pharmacogenomics [J]. Curr Top Med Chem, 2004,4 (13):1423-1431.
  • 3Ceriotti G, Chessa S, Bolla P, et al. Single nucleotide polymorphisms in the ovine casein genes detected by polymerase chain reaction-single strand conformation polymorphism [J]. J Dairy Sci, 2004, 87 (8): 2606-2613.
  • 4Zhou GH, Shirakura H, Kamahori M, et al. A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR products [J]. Hum Mutat, 2004,24 (2) :155-163.
  • 5Dearlove AM. High throughput genotyping technologies [J].Brief Funct Genomic Proteomic, 2002, 1 (2): 139-150.
  • 6Che Y, Chen X. A multiplexing single nucleotide polymorphism typing method based on restriction-enzyme mediated single-base extension and capillary electrophoresis[J]. Anal Biochem, 2004, 329 (2): 220-229.
  • 7Bannai M, Higuchi K, Akesaka T, et al. Single-nucleotidepolymorphism genotyping for whole-genome amplified samples using automated fluorescence correlation spectroscopy [J]. Anal Biochem, 2004, 327 (2): 215-221.
  • 8Zhang X, Wei J, Yu YQ, et al. Is NOTCH4 associated with schizophrenia [J]. Psychiatr Genet, 2004, 14 (1): 43-46.
  • 9郭英君,于雅琴,史杰萍,刘树铮,尉军.人类PIP3-E基因与精神分裂症的关系[J].吉林大学学报（医学版）,2004,30(2):163-165. 被引量：1

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吉林大学学报（医学版）
2003年 第1期

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