Table 1. Frequency of Polymorphisms Studied in the OTC Gene

Exon/ Intron Nucleotide changea (codon change) Amino acid change Alleles screened Allelic frequencies This report Bibliography Heterozygosityc

Exon 2 137A>G Lys46Arg 133 0.68/0.32 0.68/0.32h,k 0.435

Exon 3 234A>G Gln78Gln 35 1.00/0.00 0.000

Intron 3 IVS3-39_40insT - 86 0.66/0.34 0.449

Intron 3 IVS3-16_17insT - 87 0.00/1.00 0.000

Intron 3 IVS3-8A>T - 93 0.34/0.66 0.5/0.5h 0.449

Exon 4 303T>A Phe101Leu 118 1.00/0.00 0.99/0.01h 0.000

Exon 4 332T>C Leu111Pro 91 1.00/0.00 1.00/0.00h 0.000

Intron 4 IVS4+8A>G - 35 1.00/0.00 0.98/0.02h 0.000

Exon 5 429T>C Tyr143Tyr 51 1.00/0.00 0.98/0.02h 0.000

Exon 5 453G>T Leu151Leu 51 1.00/0.00 0.000

Exon 6 579G>T Trp193Cys 46 1.00/0.00 0.000

Exon 6 580A>T Ile194Phe 46 1.00/0.00 0.000

Exon 6 585G>A Gly195Gly 46 1.00/0.00 1.00/0.00h 0.000

Exon 8 809A>G Gln270Arg 103 0.97/0.03 (0.94-1) 0.875/0.125h 0.96/0.04l 0.058

Exon 8 837G>A Gln279Gln 69 1.00/0.00 0.000

Exon 8 855G>A Gln285Gln 69 1.00/0.00 0.000

Intron 9 IVS9-12T>G - 35 1.00/0.00 1.00/0.00h 0.000 The novel polymorphism described here is highlighted in bold face.

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