Table I.
Differences in UGT1A1 genotypes between infants with and without BMJ
| Genotype | Infants with BMJ, n = 170 |
% | Infants without BMJ, n = 55 |
% | |
|---|---|---|---|---|---|
| Allele 1 | Allele 2 | ||||
| UGT1A1*6 | UGT1A1*6 | 88 | 51.7 | 0 | 0 |
| UGT1A1*6 | UGT1A1*60 | 23 | 13.5 | 2 | 3.6 |
| UGT1A1*6 | UGT1A1*1 | 26 | 15.2 | 15 | 27.2 |
| UGT1A1*6 | UGT1A1*28 | 1 | 0.58 | 3 | 5.4 |
| UGT1A1*28 | UGT1A1*28 | 0 | 0 | 1 | 1.8 |
| UGT1A1*28 | UGT1A1*60 | 0 | 0 | 2 | 3.6 |
| UGT1A1*28 | UGT1A1*1 | 0 | 0 | 7 | 12.7 |
| UGT1A1*60 | UGT1A1*60 | 4 | 2.3 | 1 | 1.8 |
| UGT1A1*60 | UGT1A1*1 | 5 | 2.9 | 7 | 12.7 |
| UGT1A1*1 | UGT1A1*1 | 8 | 4.7 | 17 | 30.9 |
| Other | Other* | 15 | 9.4 | 0 | 0 |
UGT1A1*1, wild-type allele; UGT1A1*6, pG71R; UGT1A1*28, c.-3279T>G+A(TA)7TAA; UGT1A1*60, c.-3279T>G.
*
Other/other genotype in the BMJ group includes homozygous for p.Y486D (UGT1A1*7) (3 cases), compound heterozygous for UGT1A1*6 and UGT1A1*7 (4 cases), compound heterozygous for UGT1A1*60 and c.-3279T>G+p.P364L (UGT1A1*63) (2 cases), compound heterozygous for UGT1A1*6 and UGT1A1*63 (1 cases), heterozygous for p.A471V (c.1412C>T) (1 case), homozygous UGT1A1*63 (1 case), UGT1A1*6/p.[G71R;Y486D] (2 cases), and UGT1A1*7/p.[G71R;Y486D] (1 case).