Appeal No. 09/959,009 Page 7
Application No. 08/958,009
The specification states that some Alu repeats show no or only minor
variation among humans. See page 14:
Three different neutral nuclear loci, comprising 55 kb total, that
encompass Alu repeats have been sequenced for multiple
representatives of diverse human population groups. Most
individuals and populations showed absolutely no variation in these
three loci.
By contrast, the Alu U and Alu D elements recited in the claims showed a high
degree of heterogeneity. See the specification, page 15 (Alu U shows “about 50
times the diversity of other typical neutral human DNA sites.”); page 16 (The
region of the LDLR gene comprising Alu U and Alu D “has maintained a higher
level of variation than other known nuclear regions. . . . [D]ifferences within the
region among human populations . . . show a high level of diversity.”); page 25
(“For the entire region, no two human sequences were identical, in contrast to
virtual monomorphism at other nuclear loci.”); and page 26 (“Thus, there is a hot-
spot for diversity, with the flanking sequences showing relatively low allelic
diversity much like most other neutral nuclear loci, such as introns or
pseudogenes.”).
In addition, we note that the claims are directed to a method requiring
analysis of only two genetic loci, Alu U and Alu D. The methods disclosed by
Shriver and Batzer, by contrast, involved analysis of different types and/or larger
numbers of genetic loci. Batzer based his conclusions on an analysis of the
presence or absence of six different Alu sequences among members of different
ethnic groups. See page 24 (“The distribution of six individual polymorphic Alu
insertions was determined in a total of 563 unrelated individuals that comprised
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