Table 3.
Results from genotype screening of blood donors
| Antigen system | dbSNP No. | Allele | Genotype | Phenotype1 | Number of donors | % of donors |
|---|---|---|---|---|---|---|
| Blood groups | ||||||
| MNS | rs7687256, | GYPA*01 | c.71G, c.72T | M+N– | 589 | 28.26 |
| (002) | rs7658293 | GYPA*02 | c.71G/A, c.72T/G | M+N+ | 1,078 | 51.58 |
| c.71A, c.72G | M–N+ | 420 | 20.15 | |||
| MNS | rs7683365 | GYPB*03 | c.143T | S+s– | 212 | 9.33 |
| (002) | GYPB*04 | c.143T/C | S+s+ | 995 | 43.77 | |
| c.143C | S–s+ | 1,066 | 46.90 | |||
| P1PK | rs21439182 | A4GALT*P1.01 | +2857T | P1 | 555 | 26.58 |
| (003) | A4GALT*P2.01 | +2857T/G | P1 | 1,017 | 48.56 | |
| +2857G | P2 | 518 | 24.86 | |||
| LU | rs28399653 | LU*01 | c.230A | Lu(a+b–) | 4 | 0.19 |
| (005) | LU*02 | c.230A/G | Lu(a+b+) | 153 | 7.34 | |
| c.230G | Lu(a–b+) | 1,927 | 92.47 | |||
| LU | rs28399656 | LU*02 | c.611T | LU:8,–14 | 1,987 | 95.35 |
| (005) | LU*02.14 | c.611T/A | LU:8,14 | 96 | 4.61 | |
| c.611A | LU:–8,14 | 1 | 0.05 | |||
| LU | rs1135062 | LU*02 | c.1615A | Au(a+b–) | 1,000 | 47.98 |
| (005) | LU*02.19 | c.1615A/G | Au(a+b+) | 933 | 44.77 | |
| c.1615G | Au(a–b+) | 151 | 7.25 | |||
| KEL | rs8176058 | KEL*01 | c.578C | K+k– | 7 | 0.25 |
| (006) | KEL*02 | c.578C/T | K+k+ | 222 | 8.08 | |
| c.578T | K–k+ | 2,518 | 91.67 | |||
| KEL | rs8176059 | KEL*02 | c.841C | Kp(a–b+c–) | 2,047 | 98.22 |
| (006) | KEL*02.03 | c.841C/T | Kp(a+b+c–) | 36 | 1.73 | |
| c.841T | Kp(a+b–c–) | 1 | 0.05 | |||
| KEL | rs8176038 | KEL*02 | c.1790T | Js(a–b+) | 2,083 | 99.95 |
| (006) | KEL*02.06 | c.1790T/C | Js(a+b+) | 1 | 0.05 | |
| c.1790C | Js(a+b–) | 0 | 0.00 | |||
| KEL | rs61729034 | KEL*02 | c.905T | KEL:11,–17 | 2,078 | 99.71 |
| (006) | KEL*02.17 | c.905T/C | KEL:11,17 | 6 | 0.29 | |
| c.905C | KEL:–11,17 | 0 | 0.00 | |||
| FY | rs12075 | FY*01 | c.125G | Fy(a+b–) | 402 | 19.29 |
| (008) | FY*02 | c.125G/A | Fy(a+b+) | 998 | 47.89 | |
| c.125A | Fy(a–b+) | 684 | 32.82 | |||
| FY | rs2814778 | FY*01N.01 or | -67T | 2,032 | 97.50 | |
| (008) | FY02N.01 | -67T/C | 46 | 2.21 | ||
| -67C | Fy(a–b–) | 6 | 0.29 | |||
| JK | rs1058396 | JK*01 | c.838G | Jk(a+b–) | 564 | 27.06 |
| (009) | JK*02 | c.838G/A | Jk(a+b+) | 999 | 47.94 | |
| c.838A | Jk(a–b+) | 521 | 25.00 | |||
| DI | rs2285644 | DI*01 | c.2561T | Di(a+b–) | 0 | 0.00 |
| (010) | DI*02 | c.2561T/C | Di(a+b+) | 3 | 0.11 | |
| c.2561C | Di(a–b+) | 2,746 | 99.89 | |||
| DI | rs75731670 | DI*02 | c.1972A | Wr(a+b–) | 0 | 0.00 |
| (010) | DI*02.03 | c.1972A/G | Wr(a+b+) | 3 | 0.14 | |
| c.1972G | Wr(a–b+) | 2,081 | 99.86 | |||
| YT | rs1799805 | YT*01 | c.1057C | Yt(a+b–) | 2,427 | 88.64 |
| (011) | YT*02 | c.1057C/A | Yt(a+b+) | 295 | 10.77 | |
| c.1057A | Yt(a–b+) | 16 | 0.58 | |||
| SC | rs56025238 | SC*01 | c.169G | SC:1,–2 | 2,727 | 99.27 |
| (013) | SC*02 | c.169G/A | SC:1,2 | 20 | 0.73 | |
| c.169A | SC:–1,2 | 0 | 0.00 | |||
| DO | rs11276 | DO*01 | c.793A | Do(a+b–) | 319 | 15.31 |
| (014) | DO*02 | c.793A/G | Do(a+b+) | 1,029 | 49.38 | |
| c.793G | Do(a−b+) | 736 | 35.32 | |||
| CO | rs28362692 | CO*01 | c.134C | Co(a+b−) | 1,931 | 92.66 |
| (015) | CO*02 | c.134C/T | Co(a+b+) | 151 | 7.25 | |
| c.134T | Co(a–b+) | 2 | 0.10 | |||
| LAN | rs149202834 | ABCB6*01 | c.574C | Lan+ | 2,064 | 99.04 |
| (033) | ABCB6*01N.13 | c.574C/T | Lan+ | 20 | 0.96 | |
| c.574T | Lan– | 0 | 0.00 | |||
| VEL | rs566629828 | VEL*01 | c.64–80ins | Vel+ | 2,653 | 96.54 |
| (034) | VEL*-01 | c.64–80ins/del | Vel+ | 94 | 3.42 | |
| c.64–80del | Vel– | 1 | 0.04 | |||
| Platelet antigens (HPA) | ||||||
| HPA-1 | rs5918 | ITGB3*176T | c.176T | HPA-1(a+b–) | 1,764 | 72.03 |
| ITGB3*176C | c.176T/C | HPA-1(a+b+) | 636 | 25.97 | ||
| c.176C | HPA-1(a–b+) | 49 | 2.00 | |||
| HPA-2 | rs6065 | GP1BA*482C | c.482C | HPA-2(a+b–) | 2,040 | 82.93 |
| GP1BA*482T | c.482C/T | HPA-2(a+b+) | 395 | 16.06 | ||
| c.482T | HPA-2(a–b+) | 25 | 1.02 | |||
| HPA-3 | rs5911 | ITGA2B*2621T | c.2621T | HPA-3(a+b–) | 909 | 38.47 |
| ITGA2B*2621G | c.2621T/G | HPA-3(a+b+) | 1,116 | 47.23 | ||
| c.2621G | HPA-3(a–b+) | 338 | 14.30 | |||
| HPA-5 | rs1801106 | ITGA2*1600G | c.1600G | HPA-5(a+b–) | 1,925 | 81.33 |
| ITGA2*1600A | c.1600G/A | HPA-5(a+b+) | 422 | 17.83 | ||
| c.1600A | HPA-5(a–b+) | 20 | 0.84 | |||
| HPA-15 | rs10455097 | CD109*2108C | c.2108C | HPA-15(a+b–) | 598 | 24.28 |
| CD109*2108A | c.2108C/A | HPA-15(a+b+) | 1,227 | 49.82 | ||
| c.2108A | HPA-15(a–b+) | 638 | 25.90 | |||
| Neutrophil antigens (HNA) | ||||||
| HNA-1 | rs448740 | FCGR3B*01 | c.227A | HNA-1(a+b–c–d–) | 349 | 12.71 |
| rs368410676 | FCGR3B*02 | c.227A/c.147T,266C | HNA-1(a+b+c–d+) | 1,174 | 42.75 | |
| rs527909462 | FCGR3B*03 | c.147T,266C | HNA-1(a–b+c–d+) | 1,100 | 40.06 | |
| rs5030738 | c.227A/c.147T,266A | HNA-1(a+b+c+d–) | 41 | 1.49 | ||
| c.227A/c.147T,266C/A | HNA-1(a+b+c+d+) | 64 | 2.33 | |||
| c.147T,266C/A | HNA-1(a–b+c+d+) | 18 | 0.66 | |||
| HNA-2 | rs1164364335 | CD177/CD177P1 | c.787A, c.787A/T | HNA-2(+/–) | 3,315 | 97.53 |
| c.787T | HNA-2(–) | 84 | 2.47 | |||
| HNA-3 | rs2288904 | SLC44A2*461G | c.461G | HNA-3(a+b–) | 1,329 | 58.42 |
| SLC44A2*461A | c.461G/A | HNA-3(a+b+) | 819 | 36.00 | ||
| c.461A | HNA-3(a–b+) | 126 | 5.58 | |||
| HNA-4 | rs1143679 | ITGAM*230G | c.230G | HNA-4(a+b–) | 1,797 | 79.06 |
| ITGAM*230A | c.230G/A | HNA-4(a+b+) | 454 | 19.97 | ||
| c.230A | HNA-4(a–b+) | 22 | 0.97 | |||
| HNA-5 | rs2230433 | ITGAL*2372G | c.2372G | HNA-5(a+b–) | 1,151 | 50.66 |
| ITGAL*2372C | c.2372G/C | HNA-5(a+b+) | 934 | 41.11 | ||
| c.2372C | HNA-5(a–b+) | 187 | 8.23 | |||
Phenotype deduced from the genotype
2
rs2143918 has a 100 % correlation with the P1/P2 phenotype in all populations except for rare individuals of African descent [21]. It was therefore used to determine the P1/P2 genotype even though it is not the causative mutation.