Appeal 2007-3395
Application 10/260,733
tumor's ('a sample') genetic make-up can be 50% 47,XXX and 50% 45
X,-X cells." (Specification at 2, ¶ 5).5
[5] Determining the presence or degree of genetic mosaicism in a cell
population can be helpful in determining the cause of a disease (e.g.,
cancer or an inherited disease) or for diagnosing or prognosing its
cause (Specification at 2, ¶ 5).
[6] Instead of analyzing the chromosomes from individual cells,
karyotyping using array-based CGH analyzes the DNA sequence copy
number of the total genomic DNA extracted from the cells
(Specification at 2, ¶ 6).
[7] From a DNA copy number perspective, the genome profile of a tumor
made up of 50% 47,XXX cells and 50% 45 X,-X cells is said to be no
different from a reference population of 100% 46,XX cells
(Specification at 2-3, ¶ 6).
[8] However, "the genetic mosaicisms observed in clinical samples will
likely only rarely involve cell populations whose combined genetic
profiles completely mask the presence of a mosaic population"
(Specification at 3, ¶ 7).
[9] The methods described in Appellant's specification are said to be
"sufficiently sensitive to detect clonally distinct (by karyotypic
criteria) cell populations within a more dominant background cell
population" (Specification at 14, ¶ 42).
5 The standard way of describing karyotypic information is to (a) give the
total number of chromosomes, (b) identify the sex chromosomes and (c)
identify any other abnormalities that may be present. A normal male
karyotype, 46,XY, means the cell contains 46 chromosomes, including one
X and one Y.
6
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