Unbiased Whole-Genome Amplification Directly From Clinical Samples

Table 2.

Genotyping of Five SNP Loci on MDA-Amplified Product From Whole Blood, Finger Stick Blood, and Buccal SWAB

Sample # CYP2C19*2 CYP2D6*8 CYP2C19*3 CYP2D6*6 CYP2D6*4 Concordance with gDNA
WB FP BS
 1 GA GG GG no deletion GG 100% 100% 100%
 2 GG GG GG no deletion GG 100% 100% 100%
 3 GG GG GG no deletion GG 100% 100% 100%
 4 GA GG GG no deletion GG 100% 100% 100%
 5 GA GG GG no deletion GG 100% 100% 100%
 6 AA GG GG no deletion GG 100% 100% 100%
 7 GA GG GG no deletion GG 100% 100% 100%
 8 GA GG GG no deletion GG 100% 100% 100%
 9 GA GG GG no deletion GG 100% 100% 100%
10 GG GG GG no deletion GG 100% 100% 100%
11 GG GG GG no deletion GG 100% 100% 100%
12 GG GG GG no deletion GG 100% 100% 100%
13 GG GG GG no deletion GA 100% 100% 100%
14 GG GG GG no deletion GG 100% 100% 100%
15 GG GG GG no deletion GG 100% 100% 100%
16 GA GG GA no deletion GG 100% 100% 100%
17 GG GG GG no deletion GA 100% 100% 100%
18 GA GG GG no deletion GG 100% 100% 100%
19 GG GG GG no deletion GG 100% 100% 100%
20 GA GG GG no deletion GG 100% 100% 100%
  • The first column shows the sample ID number of the 20 individuals tested. The next five columns show the five loci tested for genotyping, which were CYP2C19*2 (G/A), CYP2D6*8 (G/T), CYP2C19*3 (G/A), CYP2D6*6 (T deletion), and CYP2D6*4 (G/A), by TaqMan assay for allelic discrimination. The small table on the right shows the percentage genotype concordance with the genomic DNA control for the biological specimens tested. (WB) Whole blood; (FP) finger stick; (BS) buccal swab.

This Article

  1. Genome Res. 13: 954-964

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