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首页> 外文会议>2010 International Conference on Science and Social Research >Allele specific polymerase chain reaction for detection of the genetic polymorphism of NMDA receptor
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Allele specific polymerase chain reaction for detection of the genetic polymorphism of NMDA receptor

机译：等位基因特异性聚合酶链反应检测NMDA受体遗传多态性

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Allele specific polymerase chain reaction method (AS-PCR) was developed, validated and employed to determine the type and frequency of genetic polymorphism in NMDA receptor gene, GRIN2B for single nucleotide polymorphism rs10845840. The study has been approved by the relevant human ethics committee. Blood samples were collected in sodium-citrate tubes and stored at −80°C until further analysis. The genomic DNA was extracted from the whole blood using the salting out technique. Allele specific primers were designed using the appropriate software. The polymerase chain reaction method was optimised and validated using DNA sequencing technique. Sixty samples from healthy volunteers were analysed. The results demonstrated that 85% of the subjects had CC allele, 12% had CT allele and 3% had TT allele. The assay would be useful for detection of the polymorphism in GRIN2B gene since the variations that occurred in the analysed samples were more than 1%. Recently, the gene has been reported to be associated with human brain volume (temporal lobe). It was also reported that the reduced temporal lobe volume in the elderly was associated with an increased in Alzheimer''s disease risk. The optimised method will be used subsequently to elucidate the type and frequency of GRIN2B polymorphism among Alzheimer''s disease patients in Malaysia.
机译：开发，验证并使用等位基因特异性聚合酶链反应法（AS-PCR）确定NMDA受体基因GRIN2B中单核苷酸多态性rs10845840的基因多态性的类型和频率。该研究已得到有关人类道德委员会的批准。将血液样品收集在柠檬酸钠试管中，并保存在-80°C下直至进一步分析。使用盐析技术从全血中提取基因组DNA。使用适当的软件设计等位基因特异性引物。利用DNA测序技术对聚合酶链反应方法进行了优化和验证。分析了来自健康志愿者的六十份样本。结果表明，85％的受试者患有CC等位基因，12％的患者具有CT等位基因，3％的患者具有TT等位基因。该测定法对于检测GRIN2B基因的多态性将是有用的，因为在所分析的样品中发生的变异大于1％。最近，据报道该基因与人脑体积（颞叶）有关。也有报道说，老年人颞叶体积的减少与阿尔茨海默氏病风险的增加有关。随后将使用优化的方法来阐明马来西亚阿尔茨海默氏病患者中GRIN2B多态性的类型和频率。

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