DNAprint Genomics (DNAG)

[worktoplay]

I believe someone on this board was asking about PCSA a while back as it relates to the ability of DNAPrint to distinguish Native American ancestry from Hispanic, from Indo-European:

http://appft1.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&p=1&u=%2Fnetahtml%2FP....

[0113] There are clear differences in the patterns of chromosomal segment ancestry (PCSA) among persons with different ancestral histories (see FIG. 1). A series of AIMs across the chromosomes can facilitate the estimation of the most likely parental combinations that lead to the profile of sequences observed in a given person. One example of where estimates of PCSA is important is in the discrimination of persons of Hispanic ancestry from those having primarily European ancestry with some proportion of recent Native American ancestry. Indeed, this is an important determination as the political and legal rights claimed by and provided to these two groups can depend on their ancestry. Hispanic populations such as Mexican-Americans (MA) have approximately 30-40% Native American ancestry, while the balance is European with aminor portion (5% or so) African ancestry. A person who is one quarter Native American will have 25% Native American ancestry and, therefore, will overlap with many MA persons in his level of estimated ancestry. It is expected that PCSA patterns will be significantly different for these two cases and may provide some of the only genetic evidence that would facilitate an accurate definition of the ancestry in such a case. As disclosed herein, PCSA can be used in ancestry studies.

0114] An important step in these determinations is the phasing of the AIMs along chromosomal segments (see Example 2, FIG. 8; see, also Example 5, FIGS. 12 to 16). Phasing AIMs along the chromosome can be accomplished by several methods, including 1) estimation from the genotypes of the individual, 2) molecular haplotyping (e.g., allele specific PCR combined with genotyping), and 3) single sperm analysis (for female subjects the sperm of a male full sibling would provide the same profile). In addition, the disclosed methods allow simultaneous consideration of the two sex chromosomes (X and Y) and the mtDNA for ancestral inferences. AIMs are found on each of these sources, and can be informative for many of the questions regarding the ancestral proportions of a person and the population(s) from which a particular person is derived. For example, Hispanic/Latino populations have very high (65-100%) frequencies of Native American mtDNA haplogroups, while showing only a minority contribution from Native American populations in autosomal markers. Thus, for example, a person with reputed Native American ancestry on her father's side, with a non-Native American mtDNA haplogroup, is more likely not Hispanic than partially Native American as she may suspect, than were she to have a Native American mtDNA haplogroup.