Table 8.
CYP1B1 Haplotypes Associated with CYP1B1 Mutations in PCG Patients
| Country | Mutation | g.3987G>A (p.G61E) | g.3988delA (p.G61fs) | g.4048C>A (p.Y81X) | g.4322G>A (p.E173K) | g.4410C>A (p.A202D) | g.4490G>A (p.E229K) | g.4611_4619dup9bp (p.N265_R266insSNL) | g 4673_4674insC (p.R290fs) | g.4677A>G (p.D291G) | g.4791G>T (p.G329V) | g.7934delG (p.R366fs) | g.7939C>T (p.R368C) | g.7940G>A (p.R368H) | g.8006G>A (p.R390H) | g.8037_8046dup10bp (p.T404fs) | g.8162C>G (p.P442R) | g.8242C>T (p.R469W) | g.8341delA (p.M503fs) | g.8354_8373del20 (p.S506fs) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Iran | 1 | 2 | 1 | 2 | 3 | 2 | 3 | 1 | 4 | 1 | 1 | 4 | 1 | 1,2,3 | 1 | 2 | 1 | 2 | 1 | |
| (Present study) | ||||||||||||||||||||
| Saudi Arabia | 1 | 1 | ||||||||||||||||||
| (Bejjani et al, 2000) | ||||||||||||||||||||
| Ecuador | 1 | |||||||||||||||||||
| (Curry et al, 2004) | ||||||||||||||||||||
| India | 1 | 2,6 | 1,2 | 1 | ||||||||||||||||
| (Chakrabarti et al, 2006) | ||||||||||||||||||||
| Morocco | 1 | 1 | ||||||||||||||||||
| (Belmouden et al, 2002) | ||||||||||||||||||||
| Brazil | 1 | 1 | ||||||||||||||||||
| (Stoilov et al, 2002) |
Haplotypes are designated as follows: 1, (C) CGGTA; 2, (T) GTCCA; 3, (C) CGCCA; 4, (C) CGCCG; 6, -_GTGTA-.