Supplementary Material for: Identity by descent and DNA sequence variation of human SINE and LINE elements

To test the hypothesis that Alu and L1 elements are genetic characters that are essentially homoplasy-free, we sequenced a total of five human L1 elements and eleven recently integrated Alu elements from 160 chromosomes (80 individuals representing four diverse human populations). Analysis of worldwide samples at L1 loci revealed 292 segregating sites and a nucleotide diversity of 0.0050. For Ya5 Alu loci, there were 129 segregating sites and nucleotide diversity was estimated at 0.0045. The Alu and L1 sequence diversity varied element to element. No completely or partially deleted Alu or L1 alleles were identified during the analysis. These data suggest that mobile element insertions are identical by descent characters for the study of human population genetics.

为验证Alu元件（Alu elements）与L1元件（L1 elements）为本质上无趋同演化的遗传性状这一假说，我们对来自160条染色体（80名个体，代表4个不同人类族群）的共计5个人类L1元件与11个新近整合的Alu元件完成了测序。对全球人群样本的L1基因座进行分析后，共检出292个分离位点，核苷酸多样性为0.0050。针对Ya5型Alu基因座，共发现129个分离位点，核苷酸多样性经估算为0.0045。Alu与L1的序列多样性在不同元件间存在差异。本次分析未检出完全或部分缺失的Alu或L1等位基因。上述数据表明，可移动元件插入事件属于同祖同一性性状，可用于人类群体遗传学研究。