Copyright © 2009 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 84, Issue 2, 251-258,
13 February 2009
Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders
to Utah Samples in the HapMap Project
http://www.cell.com/AJHG/retrieve/pii/S0002929709000251 [Link to PDF here]
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.