Gitschier Jane
Department of Medicine and Pediatrics and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Am J Hum Genet. 2009 Feb;84(2):251-8. doi: 10.1016/j.ajhg.2009.01.018.
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.
人类遗传学研究中的一个关注点是保护研究参与者的隐私。鉴于基因型信息可在网上获取以方便发现遗传关系，族谱登记库的增长可能导致隐私泄露。通过反复使用两个这样的网络档案库，即家庭搜索（FamilySearch）和索伦森分子族谱基金会（Sorenson Molecular Genealogy Foundation），我得以识别出对后期圣徒教会的创立起到关键作用的两名男性约瑟夫·史密斯（Joseph Smith）和杨百翰（Brigham Young）的Y染色体可能的单倍型。然后，基于Y染色体的单倍型分析，我确定了参与国际人类基因组单体型图计划（HapMap计划，即“CEU”组）的犹他州人中是否有与这两名男性相关的。虽然CEU组的参与者中似乎没有男性直系亲属，但我发现通过类似的过程可以对CEU参与者的姓氏进行预测。在30个不相关的CEU样本中，有20个至少显示出一个完全匹配，其中17个可以确定来自犹他州或邻近州的潜在祖先。对于其余10个样本，匹配几乎完美，通常仅相差一个标记重复单元。在另外两个大型数据库中进行的相同查询显示的个体匹配较少，并有助于明确哪些姓氏预测更可能是正确的。由于来自同意参与研究的受试者和从事遗传族谱研究的个人的大量基因型数据集都将可在网上获取，这种数据库之间的三角测量可能会危及研究对象的隐私。
