Cystinuria type and genetic frequencies of the probands
| Genotype | Cystinuria type | Total probands (%) | |||||
|---|---|---|---|---|---|---|---|
| I | Non-I | Non-I carriers* | Mixed | Untyped | |||
| *Heterozygote probands with cystine lithiasis. | |||||||
| †Includes one family with two mutations in the same chromosome in addition to the mutation found in the other chromosome. | |||||||
| ‡Includes two families with two mutations in the same chromosome in addition to the mutation found in the other chromosome. | |||||||
| §Includes two families with two mutations found in one chromosome and no mutation found in the other chromosome. | |||||||
| For patients AA(B) and BB(A), two alleles causing the disease and two explained alleles in each case have been taking into account in the calculations. | |||||||
| A, allele SLC3A1 mutated; B, allele SLC7A9 mutated; +, normal allele; ?, unknown allele. | |||||||
| AA | 29† | 2 | 25† | 56 (34.1) | 126 (76.8) | ||
| AA(B) | 1 | 1 (0.6) | |||||
| BB | 1 | 34‡ | 7 | 23† | 65 (39.6) | ||
| B+ | 3 | 3 (1.8) | |||||
| BB(A) | 1 | 1 (0.6) | |||||
| A? | 5 | 1 | 5 | 11 (6.7) | 33 (20.1) | ||
| B? | 2 | 7 | 2§ | 11 | 22 (13.3) | ||
| ?? | 2 | 3 | 5 (3.0) | ||||
| Total probands (%) | 37 (22.6) | 43 (26.2) | 3 (1.8) | 14 (8.5) | 67 (40.9) | 164 (100) | |
| Total alleles | 74 | 89 | 28 | 134 | |||
| Explained alleles (%) | 67 (90.5) | 78 (87.6) | 25 (89.3) | 112 (83.6) | |||