Table 3 of
Churchill, Mol Vis 2005;
11:66-70.
Table 3. Comparison of sequence variations in Peters' anomaly and normal controls
The compound heterozygote in codon 432 has only been identified in Peters' anomaly cases in one study (26 Peters' anomaly cases, 100 normal controls) [12]. IVS1 refers to intervening sequence 1.
-16 IVS1 -13 IVS1 Codon 48 Codon 432 Codon 449 -------- ----------------- ----------------- ----------------- ----------------- Peters' Normal Peters' Normal Peters' Normal Peters' Normal Peters' anomaly control anomaly control anomaly control anomaly control anomaly Sequence (n=26) (n=100) (n=26) (n=100) (n=26) (n=100) (n=26) (n=100) (n=26) -------------- -------- ------- ------- ------- ------- ------- ------- ------- ------- Wild type 96% 52% 69% 51% 65% 11% 54% 10% 65% Heterozygous 4% 39% 27% 40% 31% 35% 39% 15% Homozygous 9% 4% 9% 4% 54% 19% 51% 20% Compound 27% heterozygous |