Accuracy and Precision of SNP Genotyping in a Panel of Test Series
| Gene | Position | Heterozygotes | Homozygotes | |||||||||||||
| B1a/B1 | B2a/B2 | B1s/B1 | B2s/B2 | |||||||||||||
| N | ER | AM | RSD | ER | AM | RSD | N | ER | AM | RSD | N | ER | AM | RSD | ||
| ACE | A-240T | 13 | 0.5 | 0.569 | 0.273 | 0.5 | 0.611 | 0.125 | 6 | 1 | 0.958 | 0.08 | 11 | 1 | 0.975 | 0.064 |
| ″ | T1237Ca | 12 | 0.5 | 0.573 | 0.046 | 2.5 | 2.232 | 0.023 | 3 | 1 | 1.061 | n.d. | 7 | 3 | 2.605 | 0.029 |
| ″ | T1237Cb | 12 | 0.5 | 0.558 | 0.039 | 1 | 0.954 | 0.03 | 3 | 1 | 1.055 | n.d. | 7 | 3 | 2.636 | 0.017 |
| ″ | G2215A | 8 | 0.5 | 0.546 | 0.04 | 0.5 | 0.558 | 0.056 | 4 | 1 | 1.067 | 0.039 | 3 | 1 | 0.896 | n.d. |
| ″ | G2350A | 8 | 0.5 | 0.613 | 0.065 | 0.5 | 0.615 | 0.04 | 4 | 1 | 1.106 | 0.017 | 3 | 1 | 1.032 | n.d. |
| ″ | T3409Cc | 7 | 0.5 | 0.569 | 0.068 | 0.5 | 0.578 | 0.11 | 3 | 1 | 0.957 | n.d. | 5 | 1 | 1.053 | 0.056 |
| ″ | T3409Cd | 16 | 2.5 | 2.041 | 0.05 | 0.5 | 0.564 | 0.093 | 11 | 3 | 2.379 | 0.089 | 3 | 1 | 0.971 | n.d. |
| AGT | G-6A | 12 | 0.5 | 0.573 | 0.141 | 0.5 | 0.722 | 0.069 | 7 | 1 | 1.071 | 0.082 | 3 | 1 | 1.204 | n.d. |
| ″ | A-20C | 7 | 1.5 | 1.242 | 0.035 | 0.5 | 0.695 | 0.048 | 1 | 2 | 1.606 | n.d. | 14 | 1 | 0.76 | 0.08 |
| AT1R | A-227C | 11 | 0.5 | 0.494 | 0.104 | 2 | 2.07 | 0.115 | 33 | 1 | 0.857 | 0.04 | 3 | 4 | 3.984 | n.d. |
| ″ | C-226G | 11 | 0.5 | 0.473 | 0.101 | 2 | 2.001 | 0.114 | 33 | 1 | 0.939 | 0.038 | 3 | 4 | 3.866 | n.d. |
| ″ | A1166Ce | 7 | 0.5 | 0.653 | 0.087 | 0.5 | 0.611 | 0.079 | 1 | 1 | 0.89 | n.d. | 7 | 1 | 1.176 | 0.061 |
| ″ | A1166Cf | 4 | 0.5 | 0.609 | 0.054 | 1.5 | 1.196 | 0.059 | 3 | 2 | 1.456 | n.d. | 8 | 1 | 1.128 | 0.044 |
[i] Acronyms used: (ACE) humanangiotensinogen-converting enzyme gene; (AGT) human angiotensinogen gene; (AT1R) human angiotensin II type I receptor gene. Designations of the polymorphic positions are as inHubert et al. 1991, Jeunemaitre et al. 1992, andBonnardeaux et al. 1994. A-226C and C-227G have been entitled according to standard principles for SNP nomenclature. Abbreviations: (ER) expected ratio, (AM) arithmetic mean; (RSD) relative standard deviation, the number limit for this operation was set to four; (n.d.) not determined; (B1a/B1) ratio between the initially appearing base of the respective SNP (in heterozygous samples) and a non-allelic counterpart; (B2a/B2) definition analogous with that of B1a/B1; (B1s/B1) ratio between the initial base of a homozygous SNP and a reference counterpart; (B2s/B2) definition analogous with that of B1s/B1. Index letters: (A) the dispensing scheme was as specified in Fig. 2B; (B) the nucleotide dispensing protocol was according to specification in Fig. 2C; (C) the 3′ end of the sequencing primer was annealed in 5′ juxtaposition, relative to the SNP; (D) the sequencing primer was located three bases in the upstream direction, in relation to the SNP; (E) the sequencing approach adhered to that of c; (F) the sequencing primer (3′ end) was positioned four bases 5′ of the SNP.