Table 2.
Distribution of the 4 bp 5′ deletion among D1 and D2 alleles of GALT
| GALT genotype of patient (biochemically confirmed) | No. of samples | No. of D2 alleles [p.D314 + p.L218(CTA)] | No. of D1 alleles [p.D314 + p.L218L(TTA)] | Other alleles (N or G) | No. of alleles carrying (GTCA)2 | No. of alleles carrying (GTCA)3 |
|---|---|---|---|---|---|---|
| D2/D2 | 18 | 36 | 0 | 0 | 36 | 0 |
| D2/N | 52 | 52 | 0 | 52 N | 52 | 52 |
| D2/G | 109 | 109 | 0 | 109 G | 109 | 108a |
| D2/D1 | 1 | 1 | 1 | 0 | 1 | 1 |
| D1/G | 3 | 0 | 3 | 3 G | 0 | 6 |
| Total | 183 | 198 | 4 | 164 | 198 | 167 |
D1 alleles were identified on the basis of p.D314 + p.L218L(TTA); D2 alleles were identified on the basis of p.D314 + p.L218(CTA). N alleles were identified on the basis of N314, no detected mutations, and normal biochemical activity.
aOne G allele in this cohort was the 5 kb deletion, which removes the 5′ GALT sequence.