Human genome consensus coding sequence

1
Fig. S3
Human genome consensus coding sequence ABCB8,
ABCB10 28 exons
Design primers for PCR amplification, HA analysis
and direct sequencing of coding exons and
intron-exon boundaries 8511 bp target sequences
24 primer pairs
PCR amplification of 94 leukemia DNA samples 0.85
Mb total cancer sequences
Heteroduplex analysis
Direct sequencing When multiple SNPs are known in
one exon
Sequence samples with aberrant HA peaks (by
universal M13 primers)
47 putative mutations observed
246 known SNPs observed
0 not present in remission samples/T cells/donors
13 missense
68 frequency different from database
Validate in remission samples, cultured T cells
or donor samples
13 present in T cells /donors /remission samples
21 new exonic changes
7 present in in remission samples/T cells/donors
8 silent
178 frequency same as database
1 undetermined to be somatic or germline
0 within 15 bases from exon-intron boundary
26 new intronic changes
26 not within 15 bases from exon-intron boundary