Table 1 of
Wang, Mol Vis 2004;
10:851-856.
Table 1. MYOC and OPTN variants identified in the Philippine family
The χ2 test or Fisher's exact test was used to compare the frequencies of various alleles and genotypes between JOAG and normal subjects. No polymorphism was statistically significant (p>0.05).
Allele Genotype frequency (%) frequency ----------------- -------------- Sequence Codon JOAG Normal JOAG Normal Gene Location change change (n=18) (n=36) (n=9) (n=18) ----- -------- ---------- ------ ------- ------- ----- ------ MYOC Exon 1 c.227G>A R76K 3(17) 7(19.4) 0/3/6 1/5/12 Promoter -80G>A - 3(17) 4(11.1) 0/3/6 1/2/15 Promoter -1000C>G - 1(5.6) 3(8.3) 0/1/9 0/3/15 OPTN Exon 4 c.412G>A T34T 5(27.8) 6(16.7) 0/5/4 0/6/12 Exon 5 c.603T>A M98K 2(11.1) 5(13.9) 0/2/7 0/5/13 Exon 16 c.1944G>A R545Q 0(0) 3(8.3) 0/0/9 0/3/15 Intron 7 IVS7+24G>A - 5(27.8) 4(11.1) 0/5/4 1/2/15 |