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Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP) pyrosequencing and Sanger sequencing

机译:检测EAAT2启动子中三个紧密定位的单核苷酸多态性:单链构象多态性(SSCP)焦磷酸测序和Sanger测序的比较

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摘要

BackgroundSingle-strand conformational polymorphism (SSCP) is still a frequently used genotyping method across different fields for the detection of single nucleotide polymorphisms (SNPs) due to its simplicity, requirement for basic equipment accessible in most laboratories and low cost. This technique was previously used to detect rs4354668:A > C (g.-181A > C) SNP in the promoter of astroglial glutamate transporter (EAAT2) and the same approach was initially used here to investigate this promoter region in a cohort of newborns.
机译:背景技术单链构象多态性(SSCP)仍然是跨领域用于检测单核苷酸多态性(SNP)的一种常用基因分型方法,因为它简单易行,大多数实验室都需要基本设备,而且成本低廉。该技术以前曾用于检测星形胶质谷氨酸转运蛋白(EAAT2)启动子中的rs4354668:A> C(g.-181A> C)SNP,最初在此方法中使用了相同的方法来研究新生儿队列中的该启动子区域。

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