序列多样性和大规模输入人类载脂蛋白E基因的snp。
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Nickerson哒,泰勒SL,富勒顿SM, Weiss公里,克拉克AG) Stengard JH, Salomaa V, Boerwinkle E,唱CF
序列多样性和大规模输入人类载脂蛋白E基因的snp。
基因组研究》2000年10月,10 (10):1532 - 45。
- PubMed ID
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11042151 (在PubMed]
- 文摘
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基因分型结果的常见策略大样本始于人类单核苷酸多态性(SNP)的特征进行排序候选区域在一个小样本SNP的发现。这通常是紧随其后的是这些网站输入大样本观察到变化在一个更小的样本。我们目前的结果从一个系统的调查人类载脂蛋白E轨迹的变化(APOE),以及双重抽样策略的评估基于这些数据。我们跨越整个APOE基因测序5.5 kb地区核心72人的样本,包括24个非洲裔美国人从杰克逊,密西西比;明尼苏达州的欧裔美国人从罗彻斯特;欧洲人从北卡累利阿共和国,芬兰。这个序列的调查发现21个snp和1 multiallelic indel, 14的没有先前报道。等位基因不同种群之间的相对频率,和10个网站多态在只有一个人口样本。寡核苷酸结扎化验(OLA)开发20这些网站(省略indel和紧密联系SNP)。这些都是在2179个人三个人口从同一采样(n = 843、884和452年,分别)。 Relative allele frequencies were generally consistent with estimates from the core sample, although variation was found in some populations in the larger sample at SNPs that were monomorphic in the corresponding smaller core sample. Site variation in the larger samples showed no systematic deviation from Hardy-Weinberg expectation. The large OLA sample clearly showed that variation in many, but not all, of OLA-typed SNPs is significantly correlated with the classical protein-coding variants, implying that there may be important substructure within the classical epsilon 2, epsilon 3, and epsilon 4 alleles. Comparison of the levels and patterns of polymorphism in the core samples with those estimated for the OLA-typed samples shows how nucleotide diversity is underestimated when only a subset of sites are typed and underscores the importance of adequate population sampling at the polymorphism discovery stage. [The sequence data described in this paper have been submitted to the GenBank data library under accession no. AF261279.]