核苷酸(Nucleotide)是核酸(RNA和DNA)的基本构建单元。一个核苷酸由一个五碳糖分子(RNA中是核糖,DNA中是脱氧核糖)连接到一个磷酸基团和一个含氮碱基组成。DNA中使用的碱基有腺嘌呤(A)、胞嘧啶(C)、鸟嘌呤(G)和胸腺嘧啶(T)。
什么是单核苷酸变异?例如,在部分个体中,参考基因组某一位点处的 G 核苷酸可能会被 A 取代,则称为单核苷酸变异;该 SNP 的两种可能的核苷酸变异(G 或 A)称为等位基因(Allel)。
3.jpg 280.24 KB参考文献:
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