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Table 2 Estimated population frequencies for antigen D negative RHD positive and Del haplotypes in Europeans

From: RHD positive haplotypes in D negative 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

Cede s

   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

 

D el alleles

   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

  1. * 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.
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BMC Genomic Data

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