Table 2 Results of molecular analysis for DNA from 45 PH-1 Syrian patients
From: Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1
Mutation | Exon | Maj/min | Number of alleles | Allele frequency (%) |
|---|---|---|---|---|
c.33_34insC | 1 | Maj | 30 | 33.3 |
c.584 T > G | 5 | Min | 11 | 12.2 |
c.1007 T > A | 10 | Min | 10 | 11.1 |
c.322 T > C | 2 | Min | 6 | 6.7 |
c.971-972delTG | 10 | Maj | 6 | 6.7 |
c.198C > A | 2 | Maj | 5 | 5.6 |
c.508G > A | 4 | Min | 4 | 4.4 |
c.305 T > A | 2 | Min | 2 | 2.2 |
c.602A > T | 6 | Min | 2 | 2.2 |
c.866G > A | 9 | Maj | 2 | 2.2 |
c.603C > A | 6 | Maj | 2 | 2.2 |
c.359-1_382del | 3 | Maj | 2 | 2.2 |
c.731 T > C | 7 | Min | 1 | 1.1 |
c.140G > A | 1 | Min | 1 | 1.1 |
c.941C > T | 9 | Min | 1 | 1.1 |
c.1078C > T | 11 | Maj | 1 | 1.1 |
c.997A > T | 10 | Maj | 1 | 1.1 |