Table 3. Sequence Analysis of Clonal Ig... | American Society of Hematology

Table 3.

Sequence Analysis of Clonal Ig Heavy and Light Chain Gene Rearrangements

Patient	V Gene	In-frame^3-150	% Mutation	Intraclonal Diversity	No. of Variants	Mixed^3-151 Sequences	Remarks
1	V_H 4-34	+	7.2	Yes	3	2x 308G/C
	V_κ A27(a)	+	7	No
	V_κ A27(b)	−	0
2	V_H 3-33	+	7.8	Yes	3	1x 303G/A	7 sequences with 19 bp deletion
	V_κ L12a(a)	+	2.7	Yes	2
	V_κ O12(b)	−	9.4	No			1 nonsense mutation in codon 35^3-152; duplication of 109 bp
3	V_H 4-31	+	18.7	Yes	3		7 sequences with 21 bp duplication
	V_κ A19	+	6.9	Yes	2	1x 23T/C
						12x 23G/C
4	V_H 3-30	+	8.9	Yes	3	1x 240A/G
						241A/G
						2x 158C/G
						274T/A
						5x 158 C/G
						273A/G
						274T/A
	V_κ L1	−	0
	V_κ A2	+	6.9	No			1 nonsense mutation in codon 93; deletion of 33 bp; Cys88-Ser
	V_λ 1g	+	1.4-4.0	Yes	6	1x 108A/G 109T/C 223A/G 275A/G	2 sequences with a 1 and a 6 bp deletion and Cys23-Ser
						6x variants with and without deletion
	V_λ 3m	−	0.4-1.2	Yes	2
5	V_H 4-39	+	23.6	Yes	2	1x 114T/C	Cys92-Tyr
	V_κ B3	−	0
	V_λ 2b2	+	11.6	No		1x 94T/C
						178C/T
6	V_H 1-8	+	24.0	Yes	2		3 nonsense mutations in codons 1, 3 and 91; 1 and 3 bp insertion; Cys22-His
	V_H4-34	+	18.3	Yes	3
	V_λ 1b	+	7.1	Yes	2	1x 15T/C
						52T/C
						1x 181T/C
	V_λ 3r	−	0

Patient	V Gene	In-frame^3-150	% Mutation	Intraclonal Diversity	No. of Variants	Mixed^3-151 Sequences	Remarks
1	V_H 4-34	+	7.2	Yes	3	2x 308G/C
	V_κ A27(a)	+	7	No
	V_κ A27(b)	−	0
2	V_H 3-33	+	7.8	Yes	3	1x 303G/A	7 sequences with 19 bp deletion
	V_κ L12a(a)	+	2.7	Yes	2
	V_κ O12(b)	−	9.4	No			1 nonsense mutation in codon 35^3-152; duplication of 109 bp
3	V_H 4-31	+	18.7	Yes	3		7 sequences with 21 bp duplication
	V_κ A19	+	6.9	Yes	2	1x 23T/C
						12x 23G/C
4	V_H 3-30	+	8.9	Yes	3	1x 240A/G
						241A/G
						2x 158C/G
						274T/A
						5x 158 C/G
						273A/G
						274T/A
	V_κ L1	−	0
	V_κ A2	+	6.9	No			1 nonsense mutation in codon 93; deletion of 33 bp; Cys88-Ser
	V_λ 1g	+	1.4-4.0	Yes	6	1x 108A/G 109T/C 223A/G 275A/G	2 sequences with a 1 and a 6 bp deletion and Cys23-Ser
						6x variants with and without deletion
	V_λ 3m	−	0.4-1.2	Yes	2
5	V_H 4-39	+	23.6	Yes	2	1x 114T/C	Cys92-Tyr
	V_κ B3	−	0
	V_λ 2b2	+	11.6	No		1x 94T/C
						178C/T
6	V_H 1-8	+	24.0	Yes	2		3 nonsense mutations in codons 1, 3 and 91; 1 and 3 bp insertion; Cys22-His
	V_H4-34	+	18.3	Yes	3
	V_λ 1b	+	7.1	Yes	2	1x 15T/C
						52T/C
						1x 181T/C
	V_λ 3r	−	0

Mutation frequencies refer to the germline sequences from Schäble,52 Matsuda,53 and Williams.54 In cases with intraclonal diversity, mutation frequencies refer to the sequence variant with greatest homology to the germline sequence. The suffixes (a) and (b) for the V_κrearrangements of patients 1 and 2 refer to Table 2, where they are used to label different V_κ rearrangements using V_κ gene segments of the same V gene family. All sequences have been deposited in the EMBL database (AJ130895 through AJ130914). For rearrangements with intraclonal diversity, the sequence with the greatest homology to the germline sequence has been deposited.

F3-150

All in-frame rearrangements are potentially functional when somatic mutations are disregarded.

F3-151

Mixed sequences contain at one or more positions two nucleotides with approximately equal fluorescense intensities on sequencing gels (confirmed by sequencing both strands) or consisted of partly double sequences, when a mixture of variants with and without a deletion was sequenced. Behind the number indicating how often a mixed sequence was found, the positions and the nucleotides found at the corresponding positions are given.

F3-152

Codons are numbered according to Kabat et al.55

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