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Table 1 Polymorphic nucleotide positions in introns 2–5 of the ABO gene.

From: ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase

  Intron 2 (724 bp) nt. position           
Allele 126 209 362 369 396 437 539           
dbSNP rs    2073828 2073827 687289 687621 2073826           
A 1 A C C C T C C           
A 2 A C C C T C C           
B A C C C T C C           
O 1 A C T G C T A           
O 2 AA C/T * T G C T A           
O 1v A C C C C T C           
new hybrid A C C C C T C           
  Intron 3 (1451 bp) nt. position    
Allele 205 354 399 479 525 575 969 1063 1095 1096 1170 1244 1278 1357    
dbSNP rs 493211   8176701 579622 579483 8176702 575259 574347    8176704 613423 551322 624601    
A 1 C G G C A C T A C A C C T C    
A 2 C G G C A C T A C A T C T C    
B C G G C A C T A C A C C T C    
O 1 C G G C A T T A C A C C T C    
O 2 C G G C A C T A del del C C T C    
O 1v T G G T T C C G C A C T C T    
new hybrid C A A T T C C G C A C T C T    
  Intron 4 (1686 bp) nt. position
Allele 28 73 102 114 163 215 216 346 375 738 1092 1176 1467 1496 1511 1623 1678
dbSNP rs 7848145 6151203 8176707 625593 8176708 547495 626035 626792   638756   517414 514708 641943 641959 8176712 4962040
A 1 G C C C G A A T C T C C G T T C T
A 2 G C C C G A A T C T C C G T T C T
B G C C C G A A T C T C C G T T C T
O 1 G C C/A C G A A T C T C C G T T C C
O 2 G C C C G A A T T T T C A G G C T
O 1v C ** C T A G C G C G C T A G G CC T
new hybrid C ** C T A G C G C G C T A G G CC T
  Intron 5 (554 bp) nt. position          
Allele 91 103 266 306 336 450 527 530          
dbSNP rs   8176713   8176714 8176715 8176717 8176718           
A 1 T C G C G C G A          
A 2 T C G C G C G A          
B T C G C G C G A/ G          
O 1 T C G C A C G A          
O 2 C CCCC A C G C G A          
O 1v T CCCC G T G A A A          
new hybrid T CCCC G C G C G A          
  1. * C/T etc. indicates dimorphism at this position in the same allele from different individuals. ** Insertion of GTGTGGACAGAAG between nt. 72C and 73C of the consensus (A1 [A101]) sequence in intron 4. Deviations from the consensus sequence are highlighted (bold italics).