Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project
Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project
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DOI：
10.1016/j.ajhg.2009.01.018
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发表时间：
2009-02-13
影响因子：
9.8
通讯作者：
Gitschier, Jane
中科院分区：
文献类型：
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作者：
Gitschier, Jane
人类遗传学研究中的一个问题是维护研究参与者的隐私。系谱登记的增长可能会导致隐私的丧失，因为基因型信息可以在网上获得，以方便发现遗传关系。通过反复使用两个这样的网络档案，家庭搜索和索伦森分子家谱基金会，我能够辨别出两个人的Y染色体可能的单倍型，约瑟夫史密斯和杨百翰，他们在后期圣徒教会的成立中发挥了重要作用。然后，我根据Y染色体的单倍型分析，确定是否有任何对HapMap项目做出贡献的Utahns（“CEU”集）与任何一个人有关。虽然没有一个CEU的贡献者似乎是一个男性亲属，我发现，可以通过类似的过程对CEU参与者的姓氏进行预测。对于30个不相关的CEU样本中的20个，至少发现了一个精确匹配，对于其中的17个，可以确定来自犹他州或邻近州的潜在祖先。对于剩余的10个样品，匹配几乎是完美的，通常仅偏离一个标记重复单元。在另外两个大型数据库中进行的相同查询显示出更少的个体匹配，并有助于澄清哪些姓氏预测更有可能是正确的。由于来自同意的研究对象和追求遗传谱系的个人的基因型的大型数据集将在网上访问，数据库之间的这种类型的三角测量可能会损害研究对象的隐私。
One concern in human genetics research is maintaining the privacy of study participants. The growth in genealogical registries may contribute to loss of privacy, given that genotypic information is accessible online to facilitate discovery of genetic relationships. Through iterative use of two such web archives, FamilySearch and Sorenson Molecular Genealogy Foundation, I was able to discern the likely haplotypes for the Y chromosomes of two men, Joseph Smith and Brigham Young, who were instrumental in the founding of the Latter-Day Saints Church. I then determined whether any of the Utahns who contributed to the HapMap project (the "CEU" set) is related to either man, on the basis of haplotype analysis of the Y chromosome. Although none of the CEU contributors appear to be a male-line relative, I discovered that predictions Could be made for the surnames of the CEU participants by a similar process. For 20 of the 30 unrelated CEU samples, at least one exact match was revealed, and for 17 of these, a potential ancestor from Utah or a neighboring state could be identified. For the remaining ten samples, a match was nearly perfect, typically deviating by only one marker repeat unit. The same query performed in two other large databases revealed fewer individual matches and helped to clarify which surname predictions are more likely to be correct. Because large data sets of genotypes from both consenting research subjects and individuals pursuing genetic genealogy will be accessible online, this type of triangulation between databases may compromise the privacy of research subjects.