Table 2. Relative recombination activity... | American Society of Hematology

Table 2.

Relative recombination activity of mutated RAGgenes

Patient	RAG1 protein	RAG2 protein	Relative recombination activity using pDVG93 (%)^*	E47 induced rearrangements of endogenous loci in ϕNX-WTA cells
Patient	RAG1 protein	RAG2 protein	Relative recombination activity using pDVG93 (%)^*	V_κ1-J_κ	D_H4-J_H	V_λ3-J_λ
Healthy control	Wild type	Wild type	100	+	+	+
RAG-SCID 1	N-terminal truncation	Wild type	9.3 ± 2.9	+	−	+
RAG-SCID 2 and 4	Lys820Arg	Codon 247 stop	1.4 ± 1.6	−	−	−
	Lys820Arg	Wild type	115.1 ± 54.4	+	+	+
	Wild type	Codon 247 stop	1.6 ± 2.4	−	−	−
RAG-SCID 3	Wild type	His481Pro	3.2 ± 2.0	+	−	+
RAG-SCID 6	Wild type	Gln16 stop	0	−	−	−
RAG-SCID 7	Arg404Gln	Wild type	1.3 ± 1.5	−	−	−
Mock transfection^†	—	—	0	−	−	−

Patient	RAG1 protein	RAG2 protein	Relative recombination activity using pDVG93 (%)^*	E47 induced rearrangements of endogenous loci in ϕNX-WTA cells
Patient	RAG1 protein	RAG2 protein	Relative recombination activity using pDVG93 (%)^*	V_κ1-J_κ	D_H4-J_H	V_λ3-J_λ
Healthy control	Wild type	Wild type	100	+	+	+
RAG-SCID 1	N-terminal truncation	Wild type	9.3 ± 2.9	+	−	+
RAG-SCID 2 and 4	Lys820Arg	Codon 247 stop	1.4 ± 1.6	−	−	−
	Lys820Arg	Wild type	115.1 ± 54.4	+	+	+
	Wild type	Codon 247 stop	1.6 ± 2.4	−	−	−
RAG-SCID 3	Wild type	His481Pro	3.2 ± 2.0	+	−	+
RAG-SCID 6	Wild type	Gln16 stop	0	−	−	−
RAG-SCID 7	Arg404Gln	Wild type	1.3 ± 1.5	−	−	−
Mock transfection^†	—	—	0	−	−	−

Mean of 4 RQ-PCR reactions using plasmids from 4 different transfections.

Mock transfection consisted of H₂O in case of transfection of CHO9 cells and of E47 without wt RAG genes in case of transfection of ϕNX-WTA cells.