Table 2.
Frequencies | ||||
In population | Within haplotype | |||
Allele | Estimate | 95% confidence interval | Estimate | Haplotype |
D negative alleles | ||||
RHD-CE(2-9)-D2 | 1:5,682 | 1:3,046 - 1:13,837 | 1:62 | Cde |
RHD-CE(2-9)-D1 | 1:15,152 | 1:5,610 - 1:55,568 | 1:167 | Cde |
RHD-CE(8-9)-D | 1:15,152 | 1:5,610 - 1:55,568 | 1:167 | Cde |
RHD-CE(4-7)-D1 | 1:18,036 | 1:6,678 - 1:66,145 | 1:101 | cdE |
RHD-CE(2-7)-D1 | 1:22,727 | 1:6,798 - 1:128,041 | 1:250 | Cde |
RHD-CE(2-7)-D2 | 1:22,727 | 1:6,798 - 1:128,041 | 1:250 | Cde |
RHD(W16X) | 1:22,727 | 1:6,798 - 1:128,041 | 1:250 | Cde |
RHDψ | 1:37,431 | 1:7,032 - 1:733,950 | 1:14,748 | cde |
RHD-CE(4-7)-D2 | 1:45,455* | 1:8,539 - 1:891,266 | 1:500* | Cde or cdE |
Cdes | 1:45,455 | 1:8,539 - 1:891,266 | 1:500 | Cedes |
RHD(G212V) | 1:45,455 | 1:8,539 - 1:891,266 | 1:500 | Cde |
RHD(Y330X) | 1:45,455 | 1:8,539 - 1:891,266 | 1:500 | Cde |
RHD(IVS8+1G>A) | 1:45,455 | 1:8,539 - 1:891,266 | 1:500 | Cde |
RHCE(1-9)-D | 1:54,107 | 1:10,164 - 1:1,060,924 | 1:303 | cdE |
associated with Cde | 1:1,818 | 1:1,262 -1:2,711 | 1:20 | Cde |
associated with cdE | 1:13,527 | 1:5,638 - 1:39,610 | 1:75 | cdE |
associated with cde | 1:37,431 | 1:7,032 - 1:733,950 | 1:14,748 | cde |
Total | 1:1,537 | not applicable | not applicable | |
Delalleles | ||||
RHD(M295I) | 1:6,493 | 1:3,302 - 1:13,837 | 1:71 | Cde |
RHD(K409K)† | 1:9,091 | 1:4,067 - 1:23,073 | 1:100 | Cde |
RHD(IVS3+1G>A) | 1:15,152 | 1:5,610 - 1:55,568 | 1:167 | Cde |
Total | 1:3,030 | 1:1,913 - 1:5,610 | 1:33 | Cde |
* Assuming a Cde haplotype; a cdE haplotype would result in a frequency of 1: 54,107 (95% confidence interval: 1:10,164 - 1:1,060,924; frequency within haplotype 1:303). † Silent mutation adjacent to an intron/exon boundary, probably affecting splicing.