Table 4.
HLA genotypes and RCCX modules in East-Asian subjects with W660x mutation in C4B.
| Sample ID | DRB1_1 | DRB1_2 | RCCX-1 | RCCX-2 | C4B | C4A | C4T | HLA B_1 | HLA B_2 | HLA C_1 | HLA C_2 | HLA A_1 | HLA A_2 | C4 Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1131 | 04:06 | 03:01 | na | na | 1* | 2 | 3 | 15:27 | 58:01 | 04:01 | 03:02 | 33:03 | 03:01 | no C4B |
| 1710 | 04:06 | 13:02 | na | na | 3 | 1 | 4 | 15:27 | 58:01 | 04:01 | 03:02 | 33:03 | 11:12 | na |
| 1785 | 04:06 | 07:01 | LL | LS | 2 | 2 | 4 | 15:27 | 57:01 | 04:01 | 06:02 | 11:02 | 01:01 | na |
| A-013 | 04:06 | 09:01 | LL | LL | 2 | 2 | 4 | 15:27 | 40:06 | 04:01 | 03:04 | 24:02 | 26:01 | C4A3>B1 |
| A-139 | 04:06 | 08:03 | LL | LS | 2 | 2 | 4 | 15:27 | 46:01 | 04:01 | 01:02 | 24:02 | 02:07 | C4A3>B2 |
| A-285 | 04:06 | 12:02 | LL | LL | 2 | 2 | 4 | 15:27 | 46:01 | 04:01 | 01:02 | 11:01 | 26:01 | C4A3>B1 |
| A-306 | 04:06 | 15:01 | LL | L | 1* | 2 | 3 | 15:27 | 15:12 | 04:01 | 04:03 | 11:01 | 02:03 | no C4B |
na, not available; shared HLA haplotypes are in bold. Homozygous C4B deficiency with a W660x mutation in one haplotype and an absence of a C4B gene in another haplotype is marked by an asterisk.