Table 2.
SNPs Detected by DNA Sequencing of the MBL2 Gene Promoter and Exon 1 Regions
| SNP | n | F | wt/wt* | wt/mt** | mt/mt* | MA (Freq) |
|---|---|---|---|---|---|---|
| −595 G>A (Novel) | 104a | 99 (0.93) | 5 (0.07) | 0 | A (0.02) | |
| −550C>G (rs11003125) | 28 | 27 (0.96) | 1 (0.04) | 0 | G (0.02) | |
| −435G>A (rs7100749) | 26 | 2 | 22 (0.85) | 4 (0.15) | 0 | A (0.08) |
| −428A>C (rs11003124) | 28 | 6 (0.21) | 10 (0.36) | 12 (0.43) | C (0.39) | |
| −394A>G (rs7084554) | 23 | 5 | 6 (0.26) | 6 (0.26) | 11 (0.48) | A (0.39) |
| −328AGAGAA (rs45560739) | 23 | 5 | 8 (0.33) | 5 (0.21) | 11 (0.46) | AGAGAA (0.44) |
| −245G>A (rs35236971) | 21 | 7 | 19 (0.90) | 2 (0.10) | 0 | A (0.05) |
| −221C>G (rs7096206) | 104a | 0 | 26 (0.25) | 78 (0.75) | C (0.12) | |
| −111A>T (rs67990116) | 21 | 7 | 19 (0.90) | 2 (0.10) | 0 | T (0.10) |
| −70C>T (rs11003123) | 23 | 5 | 7 (0.31) | 7 (0.30) | 9 (0.39) | C (0.46) |
| +4C>T (rs7095891) | 104a | 24 (0.23) | 45 (0.43) | 35 (0.34) | C (0.45) | |
| 154C>T (rs5030737) | 26 | 2 | 26 (1.00) | 0 | 0 | T (0) |
| 161G>A (rs1800450) | 26 | 2 | 26 (1.00) | 0 | 0 | A (0) |
| 170G>A (rs1800451) | 104a | 60 (0.58) | 38 (0.36) | 6 (0.06) | A (0.24) |
F, failed samples; MA (Freq), minor allele frequency; N, total number of samples genotyped; N.t, nucleotide; wt, wild type allele; mt, mutant allele.
a
SNPs were further genotyped in the samples remaining after sequencing; *wt=refers to the starting allele as indicated in the nucleotide base substitution column, and **mt=to the second allele. This designation has nothing to do with functional significance.