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中文摘要：
目的探讨代谢型谷氨酸受体7(GRM7)基因的拷贝数变异(CNVs)与精神分裂症的相关性。方法收集180例中国山西汉族精神分裂症患者和33名正常对照的DNA样本及资料。应用实时定量PCR方法检测位于GRM7基因外显子2上游200 bp处和外显子8附近的CNVs。同时对实时定量PCR扩增区的基因序列进行测序。结果相对拷贝数分析显示,在GRM7基因外显子2上游200 bp处,1例精神分裂症患者具有双等位基因缺失,13例患者和1名正常对照具有单个等位基因缺失。测序显示GRM7基因外显子2上游200 bp处实时定量PCR反向引物(GRM7-SV-1R)的3末'端上游第5个碱基发生了C>G变异,实时定量PCR扩增中发现的等位基因缺失均由碱基变异导致。结论实时定量PCR结合测序可以避免PCR引物序列变异导致的假阳性缺失,是检测CNVs的有效方法。本研究GRM7基因的CNVs与精神分裂症无相关性,提示GRM7基因的CNVs可能不是中国汉族精神分裂症发病的主要原因,然而其潜在的罕见CNVs可能和部分精神分裂症有关,有待于进一步研究。
英文摘要：
Objective To investigate whether genomic copy number variants(CNVs),within metabotropic glutamate receptors 7(GRM 7) gene are associated with schizophrenia.Methods We examined CNVs in conserved region of GRM7 using real time quantitative PCR among 180 Chinese schizophrenia cases and 33 normal controls.Products of real time quantitative PCR were sequenced bilaterally.Results Real time quantitative PCR found that a biallelic deletion existed at the 200 bps up-stream of exon 2 in a schizophrenia patient and a ...
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