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Whose HGP
Whose genome was sequenced?
In the international public-sector Human Genome Project (HGP), researchers
collected blood (female) or sperm (male) samples from a large number of donors.
Only a few of many collected samples were processed as DNA resources. Thus the
donor identities were protected so neither donors nor scientists could know
whose DNA was sequenced. DNA clones from many different libraries were used in
the overall project, with most of those libraries being created by Dr. Pieter J.
de Jong. It has been informally reported, and is well known in the genomics
community, that much of the DNA for the public HGP came from a single anonymous
male donor from Buffalo, New York (code name RP11). [10].
HGP scientists used white cells from the blood of 2 male and 2 female donors
(randomly selected form 20 of each) -- each donor yielding a separate DNA
library. One of these libraries (RP11) was used considerably more than others,
due to quality considerations. One minor technical issue is that male samples
contain only half as much DNA from the X and Y chromosomes as from the other 22
chromosomes (the autosomes); this happens because each male cell contains only
one X or one Y chromosome, but not both. (This is true for nearly all male cells
not just sperm cells).
Although the main sequencing phase of the HGP has been completed, studies of DNA
variation continue in the International HapMap Project, whose goal is to
identify patterns of single nucleotide polymorphism (SNP) groups (called
haplotypes, or “haps”). The DNA samples for the HapMap came from a total of 270
individuals: Yoruba people in Ibadan, Nigeria; Japanese people in Tokyo; Han
Chinese in Beijing; and the French Centre d’Etude du Polymorphisme Humain (CEPH)
resource, which consisted of residents of the United States having ancestry from
Western and Northern Europe.
In the Celera Genomics private-sector project, DNA from five different
individuals were used for sequencing. The lead scientist of Celera Genomics at
that time, Craig Venter, later acknowledged (in a public letter to the journal
Science) that his DNA was one of those in the pool.
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