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

Liskova, Mol Vis 2007; 13:1339-1347 <http://www.molvis.org/molvis/v13/a147/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535