采用焦磷酸测序法快速检测单核苷酸多态性。
Rapid detection of single nucleotide polymorphisms using a pyrosequencing method.
机构信息
Department of Clinical Pharmacology and Toxicology, Korea University College of Medicine, Korea University Anam Hospital, Seoul 02841, Republic of Korea.
出版信息
Mol Med Rep. 2022 Feb;25(2). doi: 10.3892/mmr.2021.12564. Epub 2021 Dec 16.
The present study aimed to develop a reliable pyrosequencing method to detect four single nucleotide polymorphisms (SNPs) of the flavin‑containing monooxygenase 3 () gene and to compare the ethnic differences in their allelic frequencies. The pyrosequencing method was used to detect four SNPs, namely, c.855C>T (N285N, rs909530), c.441C>T (S147S, rs1800822), c.923A>G (E308G, rs2266780) and c.472G>A (E158K, rs2266782). The allelic frequencies of these SNPs in 122 unrelated Korean subjects were as follows: i) 44.7% for c.855C>T; ii) 23.4% for c.441C>T; iii) 23.0% for c.923A>G; and iv) 27.1% for c.472G>A. Linkage disequilibrium (LD) analysis revealed that the SNPs c.923A>G and c.472G>A exhibited a strong LD (D'=0.8289, r=0.5332). In conclusion, the pyrosequencing method developed in this study was successfully applied to detect the c.855C>T, c.441C>T, c.923A>G and c.472G>A SNPs of .
本研究旨在开发一种可靠的焦磷酸测序方法来检测黄素单加氧酶 3 （）基因中的四个单核苷酸多态性（SNP），并比较其等位基因频率的种族差异。焦磷酸测序方法用于检测四个 SNP，即 c.855C>T（N285N，rs909530）、c.441C>T（S147S，rs1800822）、c.923A>G（E308G，rs2266780）和 c.472G>A（E158K，rs2266782）。122 名无关韩国个体中这些 SNP 的等位基因频率如下：i）c.855C>T 为 44.7%；ii）c.441C>T 为 23.4%；iii）c.923A>G 为 23.0%；iv）c.472G>A 为 27.1%。连锁不平衡（LD）分析显示 SNP c.923A>G 和 c.472G>A 表现出强 LD（D'=0.8289，r=0.5332）。总之，本研究开发的焦磷酸测序方法成功地应用于检测 c.855C>T、c.441C>T、c.923A>G 和 c.472G>A 的 SNP。
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