Combined Southern blot and sequence data of the immunoglobulin κ+ chronic B-cell leukemia withIGL gene rearrangements and immunoglobulin λ+chronic B-cell leukemia with IGK gene rearrangements
Igκ+ CBL . | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Patient . | IGK gene configuration3-150 . | IGL gene configuration . | IGLalleles . | Somatic mutations3-155 . | |||||||
Vλ . | Junctional region3-151 . | Jλ . | Frame3-152 . | RT-PCR3-153 . | IGK . | IGL . | |||||
1 | R/VJ-Kde | R/G | Vλ3-21 | 0 | GGGG | −3 | Jλ1 | + | ND | + | − |
2 | R/VJ-Kde | R/R | 1st Vλ2-33 | −3 | AAA | −2 | Jλ2 | −3-154 | ND | + | − |
2nd not found | |||||||||||
3 | R/R# | R/G | Vλ1-40 | 0 | − | 0 | Jλ3 | + | + | NI | + |
Igκ+ CBL . | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Patient . | IGK gene configuration3-150 . | IGL gene configuration . | IGLalleles . | Somatic mutations3-155 . | |||||||
Vλ . | Junctional region3-151 . | Jλ . | Frame3-152 . | RT-PCR3-153 . | IGK . | IGL . | |||||
1 | R/VJ-Kde | R/G | Vλ3-21 | 0 | GGGG | −3 | Jλ1 | + | ND | + | − |
2 | R/VJ-Kde | R/R | 1st Vλ2-33 | −3 | AAA | −2 | Jλ2 | −3-154 | ND | + | − |
2nd not found | |||||||||||
3 | R/R# | R/G | Vλ1-40 | 0 | − | 0 | Jλ3 | + | + | NI | + |
Igλ+ CBL . | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
. | IGK gene configuration . | IGL gene configuration . | IGKalleles . | Somatic mutations . | |||||||
Vκ . | Junctional region . | Jκ . | Frame . | RT-PCR . | IGK . | IGL . | |||||
4 | R/VJ-Kde | R/R3-160 | 1st not found | NI | + | ||||||
2nd Vκ1-39 | −6 | GA | −9 | Jκ4 | − | − | |||||
5 | R/V-Kde | R/G | Vκ2-30 | −10 | TGACC | −4 | Jκ2 | − | ND | − | NI |
6 | R/V-Kde | R/G | Vκ2-28 | −4 | TCACT | −6 | Jκ4 | − | ND | − | − |
7 | R/V-Kde | R/G | Vκ1-33 | −1 | ACC | −6 | Jκ4 | − | ND | − | − |
8 | R/V-Kde | R/G | Vκ4-1 | −3 | CCTG | −2 | Jκ2 | + | + | − | − |
9 | R/VJ-Kde | R/G | 1st Vκ1-33 | −3 | ATC | −2 | Jκ3 | + | + | − | − |
2nd Vκ4-1 | −3 | CT | 0 | Jκ4 | − | − | |||||
10 | R/VJ-Kde | R/G | 1st Vκ1-12 | −3 | − | 0 | Jκ3 | + | + | + | + |
2nd Vκ1-33 | −3 | AT | 0 | Jκ3 | − | − |
Igλ+ CBL . | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
. | IGK gene configuration . | IGL gene configuration . | IGKalleles . | Somatic mutations . | |||||||
Vκ . | Junctional region . | Jκ . | Frame . | RT-PCR . | IGK . | IGL . | |||||
4 | R/VJ-Kde | R/R3-160 | 1st not found | NI | + | ||||||
2nd Vκ1-39 | −6 | GA | −9 | Jκ4 | − | − | |||||
5 | R/V-Kde | R/G | Vκ2-30 | −10 | TGACC | −4 | Jκ2 | − | ND | − | NI |
6 | R/V-Kde | R/G | Vκ2-28 | −4 | TCACT | −6 | Jκ4 | − | ND | − | − |
7 | R/V-Kde | R/G | Vκ1-33 | −1 | ACC | −6 | Jκ4 | − | ND | − | − |
8 | R/V-Kde | R/G | Vκ4-1 | −3 | CCTG | −2 | Jκ2 | + | + | − | − |
9 | R/VJ-Kde | R/G | 1st Vκ1-33 | −3 | ATC | −2 | Jκ3 | + | + | − | − |
2nd Vκ4-1 | −3 | CT | 0 | Jκ4 | − | − | |||||
10 | R/VJ-Kde | R/G | 1st Vκ1-12 | −3 | − | 0 | Jκ3 | + | + | + | + |
2nd Vκ1-33 | −3 | AT | 0 | Jκ3 | − | − |
Ig indicates immunoglobulin; RT-PCR, reverse transcriptase–polymerase chain reaction.
R indicates IGK gene rearrangement; V-Kde, Vκ segment rearranged to kappa-deleting element; VJ-Kde, Vκ-Jκ and intron RSS-Kde rearrangement on the same allele.
The junctional region is described as the number of bases lost at the 3′ end of the V segment followed by randomly inserted nucleotides and the number of bases lost from the 5′ end of the J segment.
Frame of the rearrangement: +, in-frame, without stop codons in the junctional region; −, out-of-frame.
ND indicates not determined; +, present; −, absent.
+ indicates V segments with more than 2% somatic mutations; −, less than 2% somatic mutations; NI, not identified, because the rearrangement could not be amplified.
A deletion of 36 nucleotides was found, starting from the last 2 codons of the Jλ2 gene segment up to 30 nucleotides in the J-Cλ intron, thereby deleting the Jλ splice site.
#For biallelic IGK gene rearrangements, see Table 4.
For biallelic IGL gene rearrangements, see Table 5.