Table 2 Allele frequency distribution of missense, nonsense, and consensus splice-site variants in the HMBS, CPOX, and PPOX genes in various populationsa
Heme biosynthetic gene | Caucasians | Africans | Latinos | East Asians | South Asians |
---|---|---|---|---|---|
HMBS | |||||
Missense | |||||
0.4–0.1% | 1 | 3 | 3 | 0 | 1 |
0.1–0.01% | 7 | 11 | 8 | 7 | 9 |
0.01–0.002% | 34 | 18 | 41 | 20 | 26 |
0.002–0.0007% | 68 | 0 | 0 | 0 | 0 |
Nonsense | |||||
0.01–0.002% | 1 | 0 | 0 | 0 | 0 |
Consensus splice-site | |||||
0.1–0.01% | 0 | 0 | 0 | 0 | 1 |
0.01–0.002% | 0 | 1 | 0 | 0 | 0 |
0.002–0.0007% | 3 | 0 | 0 | 0 | 0 |
CPOX | |||||
Missense | |||||
45–1% | 3 | 4 | 3 | 2 | 3 |
1–0.1% | 0 | 3 | 2 | 3 | 4 |
0.1–0.01% | 8 | 23 | 14 | 17 | 9 |
0.01–0.002% | 31 | 23 | 15 | 21 | 31 |
0.002–0.0007% | 53 | 0 | 22 | 0 | 0 |
Nonsense | |||||
0.1–0.01% | 0 | 1 | 0 | 0 | 0 |
0.01–0.002% | 0 | 0 | 3 | 0 | 1 |
0.002–0.0007% | 1 | 0 | 0 | 0 | 0 |
Consensus splice-site | |||||
1–0.1% | 0 | 0 | 0 | 0 | 1 |
0.01–0.002% | 1 | 0 | 0 | 0 | 0 |
PPOX | |||||
Missense | |||||
7–1% | 1 | 1 | 1 | 1 | 1 |
1–0.1% | 1 | 4 | 3 | 1 | 2 |
0.1–0.01% | 3 | 17 | 7 | 13 | 8 |
0.01–0.002% | 24 | 25 | 30 | 15 | 55 |
0.002–0.0007% | 91 | 0 | 0 | 0 | 0 |
Nonsense | |||||
0.1–0.01% | 1 | 2 | 1 | 0 | 0 |
0.01–0.002% | 2 | 1 | 1 | 1 | 2 |
0.002–0.0007% | 6 | 0 | 0 | 0 | 0 |
Consensus splice-site | |||||
0.002–0.0007% | 1 | 0 | 0 | 0 | 0 |