Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes

Table 1 Serological and genotype results in the samples with ABO subtypes

ID	Phenotype	Genotype#	Forward typing					Reverse typing
ID	Phenotype	Genotype#	Anti-A	Anti-B	Anti-AB	Anti-A1	Anti-H	Ac	Bc	Oc
1	A_w	ABOA1.02/ABOO.01.01 with c.28. + 1_-2delGT	1 +	0	1 +	0	4 +	1 +	4 +	0
2	B_el	ABOB.01/ABOO.01.02 with c.28 + 5G > A	0	0	0	0	4 +	4 +	0	0
3	B_el	ABOB.01/ABOO.01.02 with c.28 + 5G > C	0	0	0	0	4 +	4 +	0	0
4	B₃	ABOB3.03/ABOO.01.01	0	mf	2 +	0	3 +	2 +	0	0
5	AB₃	ABOA1.02/ABOB3.03	4 +	1 + mf	4 +	4 +	3 +	0	0	0
6	AB₃	ABOA1.02/ABOB3.03	4 +	3 + mf	4 +	3 +	4 +	0	0	0
7	B_el	ABOB.01/ABOO.01.02 with c.204-1G > A	0	0	0	0	4 +	4 +	1 +	0
8	A_el	ABOAEL.new/ABOO.01.02	0	0	0	0	4 +	±	3 +	0
9	A_el	ABOAEL.new/ABOO.01.01	0	0	0	0	4 +	1 +	4 +	0

^#ABO*B3.03 was ABO*B.01 with c.155 + 5G > A; ABO*AEL.new was ABO*A1.02 with c.374 + 5G > A. Ac A cells, Bc B cells, Oc O cells. 1 + to 4 + = agglutination of increasing strength; mf = mixed-field agglutination; 0 = no agglutination. Nucleotide position 1 is identical to the first nucleotide of the coding sequence

ISSN: 1479-5876