IGH 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 (cell sample) | 35% (BM) | 25% (BM) | 20% (BM) | 90% (BM) | 80% (BM) | 80% (BM) | 30% (BM) | 80% (PB) | 60% (BM) | 25% (skin) | 70% (tonsil) | 35% (BM) |
Southern blotting* | ||||||||||||
Jh region | R/G | R/G | R/D | R/D | R/D | R/G | R/G or D | D/D | R/G | R/G or D | R/R | R/D |
Cμ | RNC/G | D/G | RC/G | RC/D | D/G | RC/G | RC/G | D/G | RNC/G | RC/G | D/D | D/G |
Cㆠ| G | D/G | G | G | D/G | G | G | G | G | G | G | G |
Cα | G | RC/G | G | G | RNC/G | G | G | R/G | G | G | RNC/G | RC/G |
Cε | G | G | RNC/G | G | D/G | G | G | G | G | G | D/G | G |
Heteroduplex PCR and sequencing | ||||||||||||
Gene segments | VH1-24/JH3 | negative | ND | DH3-16/JH4 | DH2-2/JH4 | DH2-2/JH5 | DH4-23/JH6 | NA | VH3-11/JH5 | DH1-26/JH5 | VH2-5/JH4 | VH1-18/JH4 |
Reading frame | + | NA | ND | NA | NA | NA | NA | NA | + | NA | − | + |
Somatic hypermutation | + | NA | ND | − | − | − | − | NA | + | − | − | + |
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 (cell sample) | 35% (BM) | 25% (BM) | 20% (BM) | 90% (BM) | 80% (BM) | 80% (BM) | 30% (BM) | 80% (PB) | 60% (BM) | 25% (skin) | 70% (tonsil) | 35% (BM) |
Southern blotting* | ||||||||||||
Jh region | R/G | R/G | R/D | R/D | R/D | R/G | R/G or D | D/D | R/G | R/G or D | R/R | R/D |
Cμ | RNC/G | D/G | RC/G | RC/D | D/G | RC/G | RC/G | D/G | RNC/G | RC/G | D/D | D/G |
Cㆠ| G | D/G | G | G | D/G | G | G | G | G | G | G | G |
Cα | G | RC/G | G | G | RNC/G | G | G | R/G | G | G | RNC/G | RC/G |
Cε | G | G | RNC/G | G | D/G | G | G | G | G | G | D/G | G |
Heteroduplex PCR and sequencing | ||||||||||||
Gene segments | VH1-24/JH3 | negative | ND | DH3-16/JH4 | DH2-2/JH4 | DH2-2/JH5 | DH4-23/JH6 | NA | VH3-11/JH5 | DH1-26/JH5 | VH2-5/JH4 | VH1-18/JH4 |
Reading frame | + | NA | ND | NA | NA | NA | NA | NA | + | NA | − | + |
Somatic hypermutation | + | NA | ND | − | − | − | − | NA | + | − | − | + |
Gene configuration: G indicates germline allele or no rearrangements detectable; R, rearranged allele, RC, rearranged CH band, which comigrates with the rearranged JH band; RNC, rearranged CH band, which does not comigrate with the rearranged JH band; D, deleted allele.
It was not possible to determine the configuration of the Cγ gene regions, due to the complexity of the banding patterns (see text).
ND indicates not determined; NA, not applicable.