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

Churchill, Mol Vis 2005; 11:66-70 <http://www.molvis.org/molvis/v11/a7/>
©2005 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535