膜转运蛋白基因单核苷酸多态性与精神分裂症

谢林; 鞠桂芝; 史杰萍; 刘树铮; 于雅琴; 桑红; 尉军

膜转运蛋白基因单核苷酸多态性与精神分裂症

Genetic association between polymorphism of claudin 5 transmembrane protein gene and schizophrenia

摘要

摘要:
目的探讨腭心面综合征中缺失的膜转运蛋白基因(claudin 5 transmembrane protein deleted in velocardiofacialsyndrome, CLDN5)单核苷酸多态性与精神分裂症的关系。
方法在173个汉族精神分裂症核心家系中, 以PCR和限制性片段长度多态(RFLP)方法对CLDN5基因rs739371(G/C碱基改变)单核苷酸多态性(SNP)进行检测。应用基于家系的连锁不平衡方法分析基因型数据。
结果 (1) CLDN5基因的rs739371等位基因和基因型分布均符合Hardy-Weinberg平衡定律(P > 0.05)。(2)TDT结果提示CLDN5基因rs739371与精神分裂症无连锁及关联。(3)CLDN5基因的rs739371位点基因型与精神分裂症的阳性症状影响妄想相关联(χ²=8.639, υ=2, P=0.013)。
结论对于本研究的中国汉族精神分裂症患者来说, CLDN5基因本身或其附近的基因可能与精神分裂症的易感性相关。

Abstract:
Objective To investigate the association between schizophrenia and the polymorphism of claudin 5 transmembrane protein deleted in velocardiofacial syndrome(CLDN5).
Methods PCR-Restrictive Fragment Length Polymorghism was used to examine the G/C single nucleotide polymorphism(SNP)of CLDN5 with 173 muclear family trios of schizophrenia.
Results The result of TDT indicated that the allelic frequency transmitted from the heterozygote parents didn't deviate 50%;There was significant relationship between CLDN5 genotype and delusion of influence(P < 0.05).
Conclusion As far as Chinese han schizophrenia in this paper are concerned, the association between the polymorphism of CLDN5 and schizophrenia may not be assured, but the effect of polymorphism of CLDN5 on psychotic symptoms in schizophrenia cann't be exculded.

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