Table 3. Distribution of the CPS1 genotypes for the polymorphism at position 1405 in healthy term infants.
CC genotype | CA genotype | AA genotype | |
Las Palmas de Gran Canaria (Spain), n = 31 | 19 (61.3) | 7 (22.6) | 5 (16.1) |
Mantova (Italy), n = 40 | 22 (55.0) | 15 (37.5) | 3 (7.5) |
Maastricht (the Netherlands, ref. 24), n = 25 | 11 (44.0) | 12 (48.0) | 2 (8.0) |
Total study group, n = 96 | 52 (54.2) | 34 (35.4) | 10 (10.4) |
Results are expressed as absolute numbers of patients (percentage). CC denotes homozygosity for the C-encoded Thr1405 variant, AA homozygosity for the A-encoded Asn1405 variant, and AC heterozygosity for this polymorphism.