Table 2 of
Churchill, Mol Vis 2005;
11:66-70.Table 2 of
Churchill, Mol Vis 2005;
11:66-70.
Table 2. Summary of results
Out of 26 Peters' anomaly cases, there were seven who showed no sequence changes in the CYP1B1 gene (two were familial and five sporadic). Four previously identified DNA polymorphisms were confirmed in both Peters' anomaly and the normal controls. A novel sequence change was identified in a simplex case of Peters' anomaly at -16 IVS1. This is not predicted to influence transcription. Seven Peters' anomaly cases manifest a compound heterozygous change at codon 432 replacing valine with leucine on one allele and arginine on the other. The "Genetics" column identifies whether the case is simples (S), familial (F), or a control. The GenBank accession number for the sequence is U03688 (OMIM 601771).
Genotype
and
Fragment position
------------ (codon/ Amino acid Ethnic
Patient 1A 3A 3B nucleotide) change Genetics origin
------- -- -- -- ----------- ----------- -------- -------
C1 * 449 GAT/GAC No effect Control UK
C2 * * * -13 C/T 48 No effect Control UK
CGG/GGG 432 Arg>Arg/Gly
GTG/CTG 449 Val>Val/Leu
GAT/GAC No effect
P1A * 432 CTG/CTG Val>Leu/Leu F UK
P1B * 432 CTG/CTG Val>Leu/Leu F UK
P2A * * * -13 C/T 48 No effect F USA
CGG/GGG 432 Arg>Arg/Gly
CTG/CTG 449 Val>Leu/Leu
GAC/GAC No effect
P2B * * 432 CTG/CTG Val>Leu/Leu F USA
449 GAC/GAC No effect
P3A * * 432 CTG/CGG Val>Arg/Leu F UK
449 GAC/GAC No effect
P3B * * 432 CTG/CGG Val>Arg/Leu F UK
449 GAC/GAC No effect
P4A * * -13 C/T 48 No effect F UK
CGG/GGG 449 Arg>Arg/Gly
GAT/GAC No effect
P5 * * * -13 T/T 48 No effect S UK
GGG/GGG 432 Arg>Gly
CTG/CGG Val>Arg/Leu
P6 * -13 C/T 48 No effect S UK
CGG/GGG Arg>Arg/Gly
P7 * -13 C/T 48 No effect S Asia
CGG/GGG Arg>Arg/Gly
P8A * -13 C/T 48 No effect S USA
CGG/GGG Arg>Arg/Gly
P9 * * -16 C/T 449 No effect S USA
GAT/GAC No effect
P10 * * -13 C/T 48 No effect S Ireland
CGG/GGG 432 Arg>Arg/Gly
CTG/CGG Val>Arg/Leu
P11 * -13 C/T 48 No effect S UK
CGG/GGG 449 Arg>Arg/Gly
GAT/GAC No effect
P12 * * 432 CTG/CGG Val>Arg/Leu S Asia
449 GAC/GAC No effect
P13 * 432 CTG/CGG Val>Arg/Leu S UK
P14 * 432 CTG/CGG Val>Arg/Leu S USA
P15 * 432 CTG/CTG Val>Leu/Leu S UK
P16 * 449 GAT/GAC No effect S Ireland
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