Table 2

Estimated population frequencies for antigen D negative RHD positive and Del haplotypes in Europeans

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.

Wagner et al. BMC Genetics 2001 2:10   doi:10.1186/1471-2156-2-10

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