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锰超氧化物歧化酶基因多态性与精神分裂症的关系
作者:张志珺1 Peet Malcolm2 Wei Jun3 Shah Sandeep4 
单位:1.南京铁道医学院附属医院,江苏,南京,210009; 2.英国Sheffield大学北方总医院 精神科; 3.英国Bangor大学 生物精神病学研究所; 4.印度Baroda大学 精神科
关键词:超氧化物歧化酶 聚合酶链反应 限制性片段长度多态性 精神分裂症 
分类号:R749.3
出版年·卷·期(页码):2000·19·第一期(25-27)
摘要:

目的:探讨印度人群锰超氧化物歧化酶(MnSOD/SOD2)基因多态性与精神分裂症的相互关系.方法:应用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)方法,在68例精神分裂症患者和62例正常人中观察SOD2基因多态性的分布.结果:(1)PCR产物的TaqI限制性酶切片段显示两个多态性位点,命名为位点A和B;(2)SOD2基因各等位基因与精神分裂症之间不存在任何关联(P>0.05);(3)精神分裂症患者显示B2B2 纯合基因型显著增加(P<0.01).结论:在印度人群中,SOD2基因多态性是否与精神分裂症相关联需进一步在以家系作对照的研究中证实.

Objective  To determine allelic association of the   Taq  I polymorphisms for the manganese superoxide dismutase (MnSOD/SOD  2) gene with schizophrenia in Indian.Method  SOD  2 gene allelic frequency and genotype were examined with the methods of the polymerase chain reaction (PCR) and restrictive fragment length polymorphism (RFLP) analysis in samples of 68 unrelated patients with schizophrenia and 62 unrelated population?based case controls.Results    Taq  I digestion of the PCR fragments showed two ploymorphic sites named site A and site B.The frequencies of the two   Taq  I polymorphic sites did not show significant difference between the subjects. But schizophrenic patients showed excess B  2B  2 homozygotic genotype as compared with normal control subjects.Conclusion  Whether or not allelic association of the   Taq  I polymorphism for SOD  2 gene is with schizophrenia needs to be replicated with an independent study to rule out a false positive result caused by the population structure.

参考文献:

[1] Moldin S O, Gottesman I I. At issue:genes,experience and chance in schizophrenia-positioning for 21st century, 1997
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[3] Kirov G, Murray R. The molecular genetics of schizophrenia:progress so far. 1997. doi:10.1016/S1357-4310(96)10060-5
[4] Mahadik S P, Mukherjee S. Free radical pathology and antioxi~dant defence in schizophrenia:a review, 1996
[5] Reddy R, Yao J K. Free radical pathology in schizophrenia: a review. 1996(1-2)
[6] Kozak M, Cox N J, Hallewell R A. Multiple TaqI RFLPs at the human manganese superoxide dismutase (SOD2) locus on chromosome 6. 1987. doi:10.1093/nar/15.20.8125
[7] Creagan R, Tischfield J, Ricciuti F. SOD genes in hu~man:chromosome localisation and electrophoretic variants. 1973. doi:10.1007/BF00385731
[8] Church S L, Grant J W, Meese E U. Sublocalisation of the gene encoding manganse superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridization and somatic cell hybrid mapping. 1992. doi:10.1016/S0888-7543(5)80202-2  

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