Table 3. Analysis of IGH, IGK, and IGL... | American Society of Hematology

Table 3.

Analysis of IGH, IGK, and IGL gene rearrangements in BMMCs of RAG-deficient SCID patients

Patient	Origin of DNA	Analyzed gene	PCR products	V gene segment	Del	Junctional region	Del	D gene segment	Del	Junctional region	Del	J gene segment	Frame	Somatic mutations	No. of identical clones
RAG-SCID 1	BMMC	IGH	Identified					D_H2-15	− 5	T	− 2	J_H4	NA	NA	1
		IGK	Not identified
		IGL	Identified	V_λ2	− 4	CCT	–	–	–	–	0	J_λ3	+	Absent	1
RAG-SCID 3	BMMC	IGH	Identified	V_H3-7	0	TTGTA	− 2	D_H3-22	0	–	− 1	J_H3b	+	Absent	4
				V_H5-51	− 1	GC	− 1	D_H2-15/ INV	− 15	GGGCTACGGGG	− 6	J_H4b	+	Absent	6
								D_H3-10	− 7	G	− 11	J_H2	NA	NA	4
								D_H2-21	− 7	AAGAC	− 4	J_H3b	NA	NA	1
								D_H4-23	− 3	GACTGCGA	− 11	J_H4	NA	NA	1
								D_H4-17	− 1	ACTAG	− 4	J_H5	NA	NA	3
		IGK	Not identified
		IGL	Identified	V_λ3-10∗01	0	–	–	–	–	–	0	J_λ3∗01	+	Absent	3

Patient	Origin of DNA	Analyzed gene	PCR products	V gene segment	Del	Junctional region	Del	D gene segment	Del	Junctional region	Del	J gene segment	Frame	Somatic mutations	No. of identical clones
RAG-SCID 1	BMMC	IGH	Identified					D_H2-15	− 5	T	− 2	J_H4	NA	NA	1
		IGK	Not identified
		IGL	Identified	V_λ2	− 4	CCT	–	–	–	–	0	J_λ3	+	Absent	1
RAG-SCID 3	BMMC	IGH	Identified	V_H3-7	0	TTGTA	− 2	D_H3-22	0	–	− 1	J_H3b	+	Absent	4
				V_H5-51	− 1	GC	− 1	D_H2-15/ INV	− 15	GGGCTACGGGG	− 6	J_H4b	+	Absent	6
								D_H3-10	− 7	G	− 11	J_H2	NA	NA	4
								D_H2-21	− 7	AAGAC	− 4	J_H3b	NA	NA	1
								D_H4-23	− 3	GACTGCGA	− 11	J_H4	NA	NA	1
								D_H4-17	− 1	ACTAG	− 4	J_H5	NA	NA	3
		IGK	Not identified
		IGL	Identified	V_λ3-10∗01	0	–	–	–	–	–	0	J_λ3∗01	+	Absent	3

PCR products of the IGH gene could not be identified using DNA from BMMCs in patients RAG-SCID 2.1, 2.2, 4, 5, and 6.

Del indicates deletion of germline gene segment nucleotides; NA, not applicable; INV, inverted.