Table 1.
Allele number | Allele (haplotype)* | GenBank No. | Allele frequency | |||||
---|---|---|---|---|---|---|---|---|
African American | Caucasian | |||||||
Observed (n) | Mean† | 95% CI‡ | Observed (n) | Mean† | 95% CI‡ | |||
1 | TGCGCCTGCGTTTCGCTTTACCCCGCCCCCTGGCTGGT | KM024996 | 219¶ | 54.8% | 47.4-62.3 | 76¶ | 39.6% | 30.6-49.1 |
2 | ------CA-ACCG---CC--T------T-------A-G | KM024997 | 10¶ | 2.5% | 1.3-4.4 | 25¶ | 13% | 8.7-18.8 |
3 | ---A--CA-ACCG---CC--T------ T-------A-G | KM024998 | 3¶ | 0.8% | 0.2-2.0 | 11¶ | 5.7% | 2.8-9.9 |
4 | ------CA--CCG---CC-----AA--T-------A-G | KM024999 | 16 | 4% | 2.4-6.3 | 1 | 0.5% | 0.03-2.8 |
5 | ------CA--CCG----C-----AA--T-------A-G | KM025000 | 4 | 1% | 0.3-2.4 | 0 | 0% | 0-1.7 |
6 | -A----C---CCG----C---------T-T-----A-- | KM025001 | 4 | 1% | 0.3-2.4 | 0 | 0% | 0-1.7 |
7 | ----T---------------T------T-------A-G | KM025002 | 6¶ | 1.5% | 0.6-3.2 | 22¶ | 11.5% | 7.2-16.8 |
8 | --------------------T------T-------A-G | KM025003 | 2 | 0.5% | 0.09-1.7 | 2 | 1% | 0.18-2.9 |
9 | --------------------T-------A-G | KM025004 | 6 | 1.5% | 0.6-3.2 | 0 | 0% | 0-1.7 |
10 | ------------------CG-TA---------A--A-- | KM025005 | 16 | 4% | 2.4-6.3 | 0 | 0% | 0-1.7 |
11 | ------------------CG-TA---------A-CA-- | KM025006 | 4 | 1% | 0.3-2.4 | 0 | 0% | 0-1.7 |
12 | -------------------G-TA---------A--A-- | KM025007 | 5 | 1.2% | 0.5-2.8 | 0 | 0% | 0-1.7 |
13 | ---------------------------T--C-A--A-- | KM025008 | 6 | 1.5% | 0.6-3.2 | 0 | 0% | 0-1.7 |
14 | ----T--------------------T-T-------A-- | KM025009 | 0¶ | 0% | 0-0.8 | 7¶ | 3.6% | 1.7-7.2 |
15 | -------------------------T-T-------A-- | KM025010 | 7 | 1.8% | 0.8-3.4 | 2 | 1% | 0.18-2.9 |
16 | ---------------------------T-------A-- | KM025011 | 6 | 1.5% | 0.6-3.2 | 1 | 0.5% | 0.03-2.8 |
17 | --T-T--------------------------------- | KM025012 | 1 | 0.2% | 0.01-1.3 | 3 | 1.6% | 0.4-4.2 |
18 | ----T-----------------------G--------- | KM025013 | 4 | 1% | 0.3-2.4 | 7 | 3.6% | 1.7-7.2 |
19 | -----T-------------------------A------ | KM025014 | 7 | 1.8% | 0.8-3.4 | 1 | 0.5% | 0.03-2.8 |
20 | --------------------------T---------A- | KM025015 | 5 | 1.2% | 0.5-2.8 | 0 | 0% | 0-1.7 |
21 | A------------------------------------- | KM025016 | 3 | 0.8% | 0.2-2.0 | 0 | 0% | 0-1.7 |
22 | -A------------------------------------ | KM025017 | 9 | 2.2% | 1.1-4.2 | 0 | 0% | 0-1.7 |
23 | ---A---------------------------------- | KM025018 | 4 | 1% | 0.3-2.4 | 1 | 0.5% | 0.03-2.8 |
24 | ----T----- ---------------------------- | KM025019 | 3¶ | 0.8% | 0.2-2.0 | 15¶ | 7.8% | 4.2-12.4 |
25 | -----T-------------------------------- | KM025020 | 1 | 0.2% | 0.01-1.3 | 0 | 0% | 0-1.7 |
26 | --------T---------------------------- | KM025021 | 1 | 0.2% | 0.01-1.3 | 2 | 1% | 0.18-2.9 |
27 | ------------------C------------------ | KM025022 | 3 | 0.8% | 0.2-2.0 | 0 | 0% | 0-1.7 |
28 | ----------------------------G--------- | KM025023 | 2 | 0.5% | 0.09-1.7 | 3 | 1.6% | 0.4-4.2 |
29 | -----------------------------------A-- | KM025024 | 2 | 0.5% | 0.09-1.7 | 0 | 0% | 0-1.7 |
30 | ------------------------------------A- | KM025025 | 5 | 1.2% | 0.5-2.8 | 7 | 3.6% | 1.7-7.2 |
Potential haplotypes | See Table S5 | 36 | 6 | |||||
Total | 400 | 192 |
The nucleotides at the 38 SNP positions with variations are shown in 5‘ to 3‘ orientation (see Figure 1 and Table S6). The remaining 8131 nucleotide positions that we determined had no variation relative to the reference sequence KM024996. The SNP G/A (bold) determines the HNA-3a/b antigen polymorphism.
Number of observed alleles (n)/Total number of alleles (African American=400 and Caucasian=192).
95% confidence interval (CI), Poisson distribution, two sided.37
Statistically significant difference by the Fisher’s exact test, two sided (p<0.0017); Bonferroni multiple comparison correction, n=30, 0.05/30=0.0017. The same alleles show statistically significant differences when the Bonferroni-Holm correction is applied.