Table 3 Polymorphism and haplotype analysis detected PH 1 patients
From: Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1
Mutation | Ex. 1 | I.1 | Ex. 2 | I.2 | I.3 | I.5 | Ex. 6 | Ex. 10 | 3, | Haplotype | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.32C > T | c.65A > G | c.165 + 16A > G | c.165 + 19_165 + 92dup74 | c.264C > T | c.358 + 13C > T | c.423 + 29C > T | c.595 + 100G > A | c.654G > A | c.1020A > G | c.*41C > A | ||
p.Pro11Leu | p.Asn22Ser | p.Ala88Ala | p.Ser218Ser | p.Ile340Met | ||||||||
rs34116584 | rs34885252 | rs66494441 | rs180177174 | rs35698882 | rs34995778 | rs117043148 | rs12997245 | rs33958047 | rs4426527 | rs4273214 | ||
c.305 T > A (p.Val102Asp) | TT | AA | GG | + | TT | TT | CC | GG | GG | GG | CC | Min |
c.322 T > C (p.Trp108Arg) | TT | AA | GG | + | TT | TT | CC | GG | GG | GG | CC | Min |
c.1007 T > A (p.Val336Asp) | TT | AA | GG | + | TT | TT | CC | GG | GG | GG | CC | Min |
c.584 T > G (p.Met195Arg) | TT | AA | GG | + | TT | TT | CC | GG | GG | GG | CC | Min |
c.602A > T (p. Asp201Val) | CC | GG | GG | + | CC | CC | TT | GG | GG | GG | AA | Min |
c.359-1_382del | CC | AA | AA | – | CC | CC | CC | GG | GG | AA | CC | Maj |
c.33_34insC (p.Lys12fs) | CC | AA | AA | – | CC | CC | CC | GG | GG | AA | CC | Maj |
c.603C > A (p.Asp201Glu) | CC | AA | AA | – | CC | CC | CC | GG | AA | AA | CC | Maj |
c.866G > A (p.Arg289His) | CC | AA | AA | – | CC | CC | CC | AA | GG | AA | AA | Maj |
c.971-972delTG (p.Val324fs) | CC | AA | AA | – | CC | CC | CC | AA | GG | AA | CC | Maj |
c.198C > A (p.Tyr66X) | CC | AA | AA | – | CC | CC | CC | AA | GG | AA | CC | Maj |