Table 2.
DARC allele distribution in African American blood donors
Nucleotide substitution (position) * |
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele † |
5′ UTR |
Intron (IVS1) |
Exon 2 |
3′ UTR |
Population frequency |
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Designation | Trivial name | −67 | +54 | +115 | +150 | −243 | −58 | 125 | 265 | 298 | +250 | +268 | Observed (n) | Mean | 95% CI ‡ |
FY*01:1 | FY*A:1 | t | c | t | c | t | a | G | C | G | c | a | 9 | 8% | 4% – 16% |
FY*01:2 | FY*A:2 | t | c | t | c | – | a | G | C | G | c | a | 1 | 1% | 0.02% – 5% |
FY*01:3 | FY*A:3 | t | c | t | c | – | a | G | C | G | t | a | 1 | 1% | 0.02% – 5% |
FY*02:1 | FY*B:1 | t | c | c | c | – | g | A | C | G | c | a | 4 | 4% | 1% – 9% |
FY*02:2 | FY*B:2 | t | c | t | t | – | a | A | C | G | c | a | 3 | 3% | 0.5% – 8% |
FY*02:3 | FY*B:3 | t | c | c | c | – | a | A | C | G | c | a | 2 | 2% | 0.2% – 7% |
FY*02:4 | FY*B:4 | t | c | t | t | – | a | A | C | G | c | g | 1 | 1% | 0.02% – 5% |
FY*03:1 | FY*B-67C:1 | c | c | t | c | – | a | A | C | G | c | a | 72 | 67% | 52% – 84% |
FY*03:2 | FY*B-67C:2 | c | c | c | c | – | a | A | C | G | c | a | 9 | 8% | 4% – 16% |
FY*04:1 | FY*B298A:1 | t | c | t | t | – | a | A | C | A | c | g | 5 | 5% | 2% – 11% |
FY*05:1 | FY*X:1 | t | c | t | t | – | a | A | T | A | c | g | 1 | 1% | 0.02% – 5% |
Total | 108 |
Nucleotide substitutions are shown relative to the reference sequence (NG_011626.1) used for analysis. Nucleotide positions are defined using the first nucleotide of the coding sequence (CDS) of the NM_002036.2 isoform as nucleotide position 1.
This allele terminology is proposed as an extension of previous nomenclatures13,18 to reflect the high resolution of the study results (see text for details). The ISBT Working Party on Red Cell Immunogenetics and Blood Group Terminology30,31 recommended using the ISBT symbol FY when referring to serologically defined alleles or molecularly defined alleles that represent a serologically defined antigen and using the Human Genome Organization (HUGO) Gene Nomenclature Committee (HGNC) symbol DARC in all other circumstances. The allele sequences have been deposited as GenBank accession numbers JN251907 to JN251917.
95% confidence interval (CI) based on Poisson distribution