Table 2 of
Burdon, Mol Vis 2003;
9:710-714.Table 2 of
Burdon, Mol Vis 2003;
9:710-714.
Table 2. Polymorphisms identified in albinism genes
All novel and previously reported polymorphisms detected in this study are given. Where informative trios were available, the Pedigree Disequilibrium Test was applied and the Chi squared and p values are given. The two common variants of tyrosinase were also combined into a haplotype. No associations were significant. Asterisks (*) indicate the number of nucleotides before the start (-) or past the end (+) of the exon indicated.
Chi
Gene Exon Position squared p value Reference
---------- ------------------ -------- ------- ------- -------------
Tyrosinase 1 S192Y 2.3 0.1319 [24]
4 R402Q 2.5 0.1138 [15]
combined haplotype 1.0 0.3173
P Gene 10 A355 [21]
13 R419Q [21]
13 +26* [21]
17 -47* [21]
22 +25* [21]
24 S788 [21]
TYRP1 3 L158 novel variant
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