Table 2.
Familial MBL subject |
VH | VL | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#of cells seq. |
V | D | J | Somati c Muta- tionsa (%) |
Produc tiveb |
# of cells seq. |
V | J | Somati c Muta- tions (%) |
Produc tive |
|
209 | 36 | 4-34 | 3-22 | 1 | N (1.0) | P | 35 | λ2-14 | λ3 | N (1.7) | P |
29 | κ2-29 | κ2 | N (0.0) | NP | |||||||
22 | 4-59 | 2-8 | 4 | Y (3.6) | P | 6 | κ3-20 | κ2 | N (1.8) | P | |
6 | λ10-54 | λ3 | N (1.7) | P | |||||||
4 | 4-34 | 2-2 | 4 | Y (9.2) | P | 2 | κ1-5 | κ1 | Y (5.9) | P | |
4 | κ4-1 | κ1 | Y (5.2) | NP | |||||||
0226 c | 30 | 3-15 | 5-24 | 4 | Y (8.3) | P | 30 | λ1-51 | λ2 | N (1.1) | P |
27 | κ2-24 | κ5 | N (0.0) | P | |||||||
3 | 3-33 | 3-10 | 5 | Y (6.9) | NP | 3 | λ1-51 | λ2 | N (1.1) | P | |
3 | κ2-24 | κ5 | N (0.0) | P | |||||||
0504 | 53 | 3-23 | 3-22 | 3 | Y (4.1) | P | 48 | λ3-21 | λ3 | Y (5.2) | P |
2 | 3-7 | 5-24 | 4 | Y (3.1) | P | 2 | λ4-69 | λ3 | N (1.1) | P | |
2 | κ2-40 | κ1 | N (0.0) | P | |||||||
2 | κ4-1 | κ4 | N (0.0) | NP | |||||||
0602 | 35 | 3-07 | 3-10 | 5 | Y (3.1) | P | 29 | λ1-51 | λ2 | N (1.0) | P |
6 | κ4-1 | κ4 | N (0.0) | P | |||||||
4 | 3-07 | 2-21 | 3 | Y (5.9) | P | 3 | κ1-5 | κ2 | Y (4.5) | P | |
1107 | 42 | 3-07 | 4-17 | 5 | N (1.7) | P | 35 | κ1-33 | κ2 | Y (3.0) | P |
31 | κ4-1 | κ2 | Y (3.0) | NP | |||||||
1 | 3-30 | 5-5 | 4 | Y (2.4) | P | 1 | κ1-16 | κ2 | Y (2.3) | P | |
1 | 3-23 | 1-26 | 4 | N (0.3) | P | 1 | κ1-5 | κ4 | N (0.3) | P | |
1109 c | 25 | 3-30 | 5-5 | 3 | Y (7.0) | P | 25 | λ10-54 | λ3 | N (1.7) | P |
8 | κ2-29 | κ3 | N (0.0) | NP | |||||||
7 | 4-61 | 2-2 | 6 | Y (3.4) | P | 5 | κ3-20 | κ5 | Y (3.7) | P | |
5 | 4-34 | 2-15 | 6 | Y (9.4) | NP | 4 | κ3-20 | κ5 | Y (3.7) | P | |
5 | 4-61 | 6-13 | 4 | Y (2.4) | P | 3 | κ2-24 | κ4 | N (0.7) | P | |
4 | 3-15 | 5-24 | 4 | Y (2.7) | P | 4 | λ2-14 | λ1 | Y (2.7) | P | |
3 | κ1-33 | κ2 | N (0.0) | NP | |||||||
3 | κ2-30 | κ2 | N (0.0) | NP | |||||||
2 | 3-23 | 2-15 | 4 | Y (8.0) | P | 1 | κ3-11 | κ4 | N (1.7) | P | |
1 | 3-7 | 2-21 | 1 | N (1.3) | P | 1 | κ1-5 | κ2 | N (0.7) | P |
Percent deviation from germline immunoglobulin sequence. A sequence was designated as mutated if the experimentally obtained immunoglobulin sequence deviated ≥ 2% from germline.
P: Immunoglobulin gene rearrangement predicted to be productive; NP: non-productive
Single cell analysis from subjects 0226 and 1109 identified single cells with identical light chains but different immunoglobulin heavy chains (subject 0226: VH3-15 and VH3-33; subject 1109: VH4-61 and VH4-34). In both cases one heavy chain rearrangement is predicted to be productive and the other is predicted to be non-productive. As such, these cells are likely derived from a single clone wherein both heavy chain loci are recombined, possibly due to B cell receptor revision events, with one productive rearrangement and the other non-productive. However, since both heavy chains were not amplified from any single cell in either subject, these heavy chain rearrangements are listed separately.