Table 3. Results of mutational analysis... | American Society of Hematology

Table 3.

Results of mutational analysis by inheritance in severe congenital neutropenia

Patient	Inheritance	Intron/exon	DNA change^3-150	RE used	Predicted protein change^3-151	Parents	Healthy controls
1	AR		No mutation
2	AR		No mutation
3	AR		No mutation
4	AD	Intron 4	G4716A (ivs4 + 1sd)	BsiWI	del Val161-Phe170	N/A	0/50
5^3-152	AD		No mutation
6^3-152	AD		No mutation
7^3-153	AD		No mutation
8^3-153	AD		No mutation
9	S	Exon 2	G1882A^3-155	MwoI	Cys26Tyr	W/T	0/57
10	S	Exon 3	G2202A^3-155	BsaJI	Gly56Glu	W/T	0/52
11	S	Intron 3	C4477A (ivs3-8sa)	AciI	insProGln94	W/T	0/57
12	S	Exon 4	C4495T	MscI	Ser97Leu	N/A	0/57
13	S	Exon 4	C4495T	MscI	Ser97Leu	N/A	0/57
14	S	Exon 4	T4569A^3-155	HinfI	Cys122Ser	W/T	0/55
15	S	Exon 5	C4898G^3-155	StyI	Pro176Arg	N/A	0/51
16	S	Exon 5	C5054T^3-155	BsoBI	Pro228Leu	Father C5054T	1/110
17	S		No mutation
18	S		No mutation

Patient	Inheritance	Intron/exon	DNA change^3-150	RE used	Predicted protein change^3-151	Parents	Healthy controls
1	AR		No mutation
2	AR		No mutation
3	AR		No mutation
4	AD	Intron 4	G4716A (ivs4 + 1sd)	BsiWI	del Val161-Phe170	N/A	0/50
5^3-152	AD		No mutation
6^3-152	AD		No mutation
7^3-153	AD		No mutation
8^3-153	AD		No mutation
9	S	Exon 2	G1882A^3-155	MwoI	Cys26Tyr	W/T	0/57
10	S	Exon 3	G2202A^3-155	BsaJI	Gly56Glu	W/T	0/52
11	S	Intron 3	C4477A (ivs3-8sa)	AciI	insProGln94	W/T	0/57
12	S	Exon 4	C4495T	MscI	Ser97Leu	N/A	0/57
13	S	Exon 4	C4495T	MscI	Ser97Leu	N/A	0/57
14	S	Exon 4	T4569A^3-155	HinfI	Cys122Ser	W/T	0/55
15	S	Exon 5	C4898G^3-155	StyI	Pro176Arg	N/A	0/51
16	S	Exon 5	C5054T^3-155	BsoBI	Pro228Leu	Father C5054T	1/110
17	S		No mutation
18	S		No mutation

RE indicates restriction enzyme; ivs, intervening sequence; sa, splice acceptor; sd, splice donor; W/T, wild type; N/A, not available; for other abbreviations, see Table 1.

F3-150

Nucleotide position corresponds to GenBank entry AC Y00477. Splice site numbering is relative to the intron/exon boundary.

F3-151

Amino acid number one is the first after the presignal peptide.

Members of family A.

Members of family B.

Novel mutation.

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