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
Direct sequencing
When multiple SNPs are known in one exon
Heteroduplex analysis
Sequence samples with aberrant HA peaks
(by universal M13 primers)
246 known SNPs observed
47 putative mutations observed
0 not present in remission samples/T cells/donors
68 frequency different from database
13 missense
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