Ig light chain gene configuration in MM patients based on Southern blotting, heteroduplex PCR analysis, and sequencing
Patients . | MM-1 . | MM-2 . | MM-3 . | MM-4 . | MM-5 . | MM-6 . | MM-7 . | MM-8 . | MM-9 . | MM-10 . | MM-11 . | MM-12 . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
MM phenotype | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igλ+ | True nonproducer | True nonproducer | True nonproducer |
Tumor load | 35% | 25% | 20% | 90% | 80% | 80% | 30% | 80% | 60% | 25% | 70% | 35% |
IGK: Southern blot analysis* | ||||||||||||
First allele | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Kde | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ + intron-Kde |
Second allele | G | Vκ-Kde | Vκ-Jκ + intron-Kde | Vκ-Jκ + intron-Kde | G | G | G | G | Vκ-Jκ + intron-Kde | G | Vκ-Kde | Vκ-Jκ + intron-Kde |
IGK:PCR | ||||||||||||
Gene segments | Vκ4-1/ Jκ2 | Vκ3-20/ Jκ4 | ND | Vκ1-12/Jκ4 Vκ2D-29/Jκ4 | Vκ1-5/ Jκ2 | Vκ3-20/ Jκ4 | Vκ1-33/ Jκ2 | Vκ1-5/ Jκ1 | Vκ1D-12/ Jκ4 | Negative | Vκ1-39/Jκ2 | Vκ1D-43/Jκ5 |
Reading frame | + | + | ND | +/− | + | + | + | + | − | NA | + | − |
Somatic hypermutation | + | + | ND | +/− | + | + | + | + | − | NA | + | − |
IGL: Southern blot analysis | ||||||||||||
Jλ-Cλ regions | G | G | G | G | G | G | G | G | Vλ-Jλ1/Vλ-Jλ2 | G | G | Vλ-Jλ1/Vλ-Jλ2 |
Patients . | MM-1 . | MM-2 . | MM-3 . | MM-4 . | MM-5 . | MM-6 . | MM-7 . | MM-8 . | MM-9 . | MM-10 . | MM-11 . | MM-12 . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
MM phenotype | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igκ+ | Igλ+ | True nonproducer | True nonproducer | True nonproducer |
Tumor load | 35% | 25% | 20% | 90% | 80% | 80% | 30% | 80% | 60% | 25% | 70% | 35% |
IGK: Southern blot analysis* | ||||||||||||
First allele | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ | Vκ-Kde | Vκ-Jκ | Vκ-Jκ | Vκ-Jκ + intron-Kde |
Second allele | G | Vκ-Kde | Vκ-Jκ + intron-Kde | Vκ-Jκ + intron-Kde | G | G | G | G | Vκ-Jκ + intron-Kde | G | Vκ-Kde | Vκ-Jκ + intron-Kde |
IGK:PCR | ||||||||||||
Gene segments | Vκ4-1/ Jκ2 | Vκ3-20/ Jκ4 | ND | Vκ1-12/Jκ4 Vκ2D-29/Jκ4 | Vκ1-5/ Jκ2 | Vκ3-20/ Jκ4 | Vκ1-33/ Jκ2 | Vκ1-5/ Jκ1 | Vκ1D-12/ Jκ4 | Negative | Vκ1-39/Jκ2 | Vκ1D-43/Jκ5 |
Reading frame | + | + | ND | +/− | + | + | + | + | − | NA | + | − |
Somatic hypermutation | + | + | ND | +/− | + | + | + | + | − | NA | + | − |
IGL: Southern blot analysis | ||||||||||||
Jλ-Cλ regions | G | G | G | G | G | G | G | G | Vλ-Jλ1/Vλ-Jλ2 | G | G | Vλ-Jλ1/Vλ-Jλ2 |
The presence of a Vκ-Jκ rearrangement was assumed from the finding of a rearranged band with the IGKJ5 probe. Rearranged bands found with the IGKDE probe were interpreted as Vκ-Kde joining, if accompanied by deletion of Jκ and Cκ segments, and as intron-Kde rearrangements, if they were found on the same restriction fragment as Vκ-Jκ rearrangements (IGKJ5 probe) together with a Cκ gene deletion (IGKC probe).
ND indicates not determined; NA, not applicable.