Table 2.
Allele | Genetic mutation | Enzyme activity | Number of alleles | Allelic frequency | 95% CI (±) | 95% CI range |
---|---|---|---|---|---|---|
*1 | Wild‐type | Normal | 266 | 0.806 | 0.043 | 0.763–0.849 |
*2 | Missense | Decreased | 54 | 0.164 | 0.040 | 0.124–0.204 |
*3 | Missense | Decreased | 6 | 0.018 | 0.014 | 0.004–0.033 |
*4 | Missense | Decreased | 4 | 0.012 | 0.012 | 0.000–0.024 |
*5 | Frame shift | None | 0 | 0.000 | 0.000 | |
*7 | Missense | None | 0 | 0.000 | 0.000 | |
*8 | Missense | Decreased | 0 | 0.000 | 0.000 | |
Genotype | Number of subjects | Observed genotype frequency (%) | Expected genotype frequency (%) | Predicted phenotype | ||
Wild‐type | ||||||
*1/*1 | 110 | 66.7 | 65.0 | EM | ||
Heterozygous | ||||||
*1/*2 | 40 | 24.2 | 26.4 | IM | ||
*1/*3 | 4 | 2.4 | 2.9 | IM | ||
*1/*4 | 2 | 1.2 | 2.0 | IM | ||
Subtotal | 46 | 27.8 | ||||
Homozygous variant/compound heterozygous | ||||||
*2/*2 | 5 | 3.0 | 2.7 | PM | ||
*2/*3 | 2 | 1.2 | 0.6 | PM | ||
*2/*4 | 2 | 1.2 | 0.4 | PM | ||
*3/*3 | 0 | 0.0 | 0.0 | PM | ||
*3/*4 | 0 | 0.0 | 0.0 | PM | ||
Subtotal | 9 | 5.4 | ||||
Total | 165 | 100 | 99.9 |
CI = confidence interval.