Clonotypic switch junction and mutation analysis in MM patient V/D/J-S regions
| Patient* . | IgH germ-line genes . | Post switch constant region . | Elapsed time, y† . | Shared mutations, by region‡ . | New mutations§ . | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| JH region . | JH6-Enh . | Enh . | Enh-Sμ . | Total . | JH-Sμ . | Total . | ||||
| MM1 | VH2-70 DH3-9 JH3b | IgG2 | 4.2 | 71, 3Δ, 1 ins | 3 | 1 | 12, 4Δ | 95 | 7, 2Δ | 9 |
| MM2 | VH2-5 DH6-19 JH3b | IgG1 | 1.6 | 86, 3Δ, 1 ins | 13 | 2 | 18, 1 ins | 129 | 3 | 3 |
| MM3 | VH3-66 DH3-9 JH4b | IgG1 | 2.3 | 29, 2Δ | 4 | 1 | 5, 2Δ | 43 | 7, 1 td | 8 |
| MM4 | VH3-53 DH2-15 JH4b | IgG3 | 1.6 | 102, 2Δ, 1 ins | 9 | 1 | 12, 2Δ, 1 ins | 130 | 5, 1Δ | 6 |
| MM5 | VH3-36 DH6-19 JH4b | IgG1 | 2.3 | 45 | 4 | 0 | 3 | 53 | 3 | 3 |
| MM6 | VH3-30.3 JH3b‖ | IgG1 | 1.8 | 63, 1Δ, 2 ins | 7 | 1 | 3, 1 ins | 78 | 0 | 0 |
| Patient* . | IgH germ-line genes . | Post switch constant region . | Elapsed time, y† . | Shared mutations, by region‡ . | New mutations§ . | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| JH region . | JH6-Enh . | Enh . | Enh-Sμ . | Total . | JH-Sμ . | Total . | ||||
| MM1 | VH2-70 DH3-9 JH3b | IgG2 | 4.2 | 71, 3Δ, 1 ins | 3 | 1 | 12, 4Δ | 95 | 7, 2Δ | 9 |
| MM2 | VH2-5 DH6-19 JH3b | IgG1 | 1.6 | 86, 3Δ, 1 ins | 13 | 2 | 18, 1 ins | 129 | 3 | 3 |
| MM3 | VH3-66 DH3-9 JH4b | IgG1 | 2.3 | 29, 2Δ | 4 | 1 | 5, 2Δ | 43 | 7, 1 td | 8 |
| MM4 | VH3-53 DH2-15 JH4b | IgG3 | 1.6 | 102, 2Δ, 1 ins | 9 | 1 | 12, 2Δ, 1 ins | 130 | 5, 1Δ | 6 |
| MM5 | VH3-36 DH6-19 JH4b | IgG1 | 2.3 | 45 | 4 | 0 | 3 | 53 | 3 | 3 |
| MM6 | VH3-30.3 JH3b‖ | IgG1 | 1.8 | 63, 1Δ, 2 ins | 7 | 1 | 3, 1 ins | 78 | 0 | 0 |
GenBank accession numbers for patients MM1 to MM6 for time points 1 and 2, respectively, are as follows: MM1: EU687200, EU687201; MM2: EU687202, EU687203; MM3: EU687204, EU687205; MM4: EU687206, EU687207; MM5: EU687208, EU687209; and MM6: EU687210, EU687211.
The time elapsed between first and second time point samples.
Common mutations in first and second time point samples, compared with the IgH locus reference sequence NT 026437.11 bases 87332713 to 87324286. The number of point mutations are listed first; followed by Δ, deletions. ins indicates insertions; td, tandem duplication.
New mutations in the CS-PCR fragment of the second time point samples are listed: mutations are described as described earlier; td indicates tandem duplication.
A definitive D gene assignment could not be determined for MM6.