Table II.
Genotypic profile of infants with BMJ
| Genotype | No. (total = 170) |
Male | Female | Birth weight, g* |
Mean ± SD | Gestational age, (weeks, days)* |
Mean ± SD | Serum bilirubin concentration | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | mg/dL | Mean ± SD | |||||||
| UGT1A1*6 | UGT1A1*6 | 88 | 47 | 41 | 2305–3902 | 3041 ± 385 | 35 w, 4 d-41 w, 3 d | 38 w, 5 d ± 9.4 d | 13.6–32.5 | 21.8 ± 3.65 |
| UGT1A1*6 | UGT1A1*60 | 23 | 13 | 10 | 2374–3408 | 2944 ± 316 | 35 w, 1 d-41 w, 2 d | 39 w, 1 d ± 12.2 d | 9.9–29.3 | 18.3 ± 4.70 |
| UGT1A1*6 | UGT1A1*1 | 26 | 15 | 11 | 2320–3818 | 3016 ± 390 | 35 w, 1 d-41 w, 1 d | 38 w, 4 d ± 11.3 d | 7.3–26.7 | 16.3 ± 4.69 |
| UGT1A1*60 | UGT1A1*60 | 4 | 3 | 1 | 3066–3430 | 3220 ± 188 | 38 w, 4 d-39 w, 4 d | 39 w, 0 d ± 3.5 d | 7.7–11.5 | 10.1 ± 1.68 |
| UGT1A1*1 | UGT1A1*1 | 8 | 5 | 3 | 2315–3400 | 3031 ± 452 | 37 w, 0 d-41 w, 3 d | 38 w, 6 d ± 12.6 d | 9.5–21.0 | 15.5 ± 3.37 |
| Other | Other† | 21 | 12 | 9 | 2306–3375 | 2889 ± 390 | 36 w, 4 d-40 w, 5 d | 39 w, 2 d ± 7.7 d | 7.9–31.8 | 19.3 ± 6.19 |
*
Birth weight and gestational age are not statistically different among the each group.
†
Other/other genotype group in infants with BMJ include the following genotypes: heterozygous UGT1A1*60 (5 cases), compound heterozygous for UGT1A1*6 and UGT1A1*28 (1 cases), homozygous for UGT1A1*7 (3 cases), compound heterozygous for UGT1A1*6 and UGT1A1*7 (4 cases), compound heterozygous for UGT1A1*60 and UGT1A1*63 (2 cases), compound heterozygous for UGT1A1*6 and UGT1A1*63 (1 cases), heterozygous for p.A471V (1 case), homozygous UGT1A1*63 (1 case), UGT1A1*6/p.[G71R;Y486D] (2 cases), and UGT1A1*7/p.[G71R;Y486D] (1 case).