Table 3 of
Liskova, Mol Vis 2007;
13:1339-1347.
Table 3. Genotyping of 22 polymorphisms located in the KERA genomic region
Results obtained in British and Finnish CNA2 patients and in 24 white British control individuals (48 chromosomes) are shown. SNP database record identifiers (rsID; when available) are shown in the second column and the chromosomal location is correlated to NCBI Build 36.1 human genome released update.
Alleles/ Alleles/ Alleles/ Amplicon number number number Polymorphism Chromosome position/ size CNA2 of of of number rsID location within a gene Primer pairs (5'-3') (bp) alleles controls controls controls ------------ ---------- ------------------------- --------------------------- -------- ------- -------- -------- -------- 1 rs6144808 89920657..89920675 (plus) AGCTGGTAGCTTTCCTTCCA 415 del/del del/del del/ins ins/ins DSPG3 intron 1-2 CCAATGCCTAAGCCACACTG 1 12 11 2 rs2701166 89969434 (minus) TTGGGGGAAACAGATAGG 465 t/t c/c c/t t/t KERA intron 2-3 GAAAATGGTGGCCGAGAGC 11 12 1 3 rs2245775 89969619 (minus) GGCTTGAGTTCTTTGTCATTCA 488 t/t t/t t/a a/a KERA intron 2-3 TCCCCCAAACAAAAGTTCAG 21 1 2 4 rs1920771 89969680 (plus) same as rs2245775 t/t t/t c/t c/c KERA intron 2-3 24 0 0 5 rs2268580 89969685 (minus) same as rs2245775 t/t t/t t/c c/c KERA intron 2-3 23 1 0 6 novel 1 89969853 (minus) same as rs2245775 a/a a/a a/g g/g KERA intron 2-3 23 1 0 7 rs2041711 89972017 (minus) GTTGTGCTGCCTGGGTATTA 410 g/g g/g g/t t/t KERA intron 2-3 ATTGTCCGTGGGGCTTTTA 21 1 2 8 rs734722 89973043 (minus) ATCTGCAGCACCTTCACCTT 481 g/g g/g g/a a/a KERA intron 2-3 GTTTCAGGCATCAGCTGTCA 22 2 0 9 rs1920775 89973205 (plus) same as rs734722 g/g g/g g/a a/a KERA intron 2-3 24 0 0 10 rs737111 89973486 (minus) GGACAATGCCTTTCAAAGAGAC 441 t/t t/t g/t g/g KERA intron 2-3 GGGCAACACATTTGCTCTTC 24 0 0 11 rs12320366 89974115 (plus) TGTTGACATATTTTCACCTCTTCC 402 c/c c/c c/t t/t KERA exon 2 TCAAATGGCTTTTCAGGAATG 23 1 0 12 rs2735333 89974121 (minus) same as rs12320366 a/a a/a a/g g/g KERA exon 2 22 0 2 13 rs1990550 89975774 (minus) GAGCCTGGGTCAATCCATTA 290 a/a a/a a/c a/a KERA 5' UTR- exon 1 TGCCTTCCAGGAATACACC 22 1 1 14 rs1990549 89975775 (minus) same as rs1990550 g/g g/g g/a a/a KERA 5' UTR- exon 1 22 1 1 15 rs1990548 89976072 (minus) TCAGGAACAGATAAAATATGTCCA 489 a/a a/a a/c c/c KERA 5' UTR- exon 1 TTCCACTTTGACAGGGCTTC 23 1 0 16 novel 2 89976073 (minus) same as rs1990548 t/t t/t t/c c/c KERA 5' UTR- exon 1 23 1 0 17 novel 3 89996330 (minus) AGGCAGCAGTCTGTCAGGTT 401 t/t t/t c/t c/c GTCCTTGATAAAGATGAAAGCAAA 20 3 1 18 rs1920726 89996495 (minus) same as novel 3 g/g g/g g/a a/a 22 0 2 19 rs3759222 90031084 (minus) TCTCAGCTCCATCCTGTTCA 402 c/c c/c a/c a/a TGGTATTTATAACAGACCTCAAATGC 22 0 2 20 rs516115 90081423 (minus) GGATTATGCATGCTGTGTCCT 449 a/a a/a g/a g/g DCN intron 4 GGGTTGGTCATTTCCCTTGT 17 7 0 21 rs566806 90083328 (minus) TCCTACTTCAATATGAAACAATGAAAA 433 c/c c/c c/t t/t DCN intron 3 TTGTGGCAGGATCTTGAAAA 17 7 0 22 rs826778 90199860 (plus) TTCCATAGCACAGGACCA CA 467 a/a a/a c/a c/c TTGGGAACCGTTCTTTTCTG 15 8 1 |