Appeal No. 09/959,009 Page 3
Application No. 08/958,009
The specification discloses that a region of the low density lipoprotein
receptor (LDLR) gene shows a high degree of sequence diversity. In particular,
the 3’ untranslated region of the LDLR gene contains two Alu sequences,1 known
as Alu U and Alu D, which are disclosed to show a high level of diversity. See
id., pages 15-16. When Appellants sequenced the Alu U element in people from
different ethnic groups, they found that
out of the 14 individuals . . . sequenced across this one Alu region,
there are 12 different alleles. . . They diverge from the consensus
at about 1% of the bases within the body of the Alu (excluding the
normally variable A tail also). This represents about 50 times the
diversity of other typical neutral human DNA sites.
Id., page 15. Alu D showed a lower, but still considerable, level of diversity. See
id., page 16. According to the specification, the degree of variability in the Alu U
and Alu D elements
indicates a rate of evolution of approximately 100 times that of
other human nuclear loci. For the entire region, no two human
sequences were identical, in contrast to the virtual monomorphism
at other nuclear loci. This level of diversity and rate of evolution
make this highly polymorphic region useful for forensic analysis.
The rapid evolution of this locus means that the allelic SNPs [single
nucleotide polymorphisms] have not had time to approach
equilibrium. Thus, haplotypes are associated with ethnic origins.
Page 25.
Discussion
Claim 9 is directed to a method of estimating ethnic affiliation by
comparing the sequence of an individual’s Alu U and Alu D regions with the
1 “Alu sequences comprise a family of generally nonfunctional processed pseudogenes. Alu
elements are DNA sequences that are approximately 300 bp long that belong to a family of
repeated sequences. Alu family members appear more than 500,000 times in the human
genome, comprising 5-6% of the genome.” Specification, pages 3-4.
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