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Table 7 Molecular background of known DEL alleles in Han

From: DEL in China: the D antigen among serologic RhD-negative individuals

Allele description

ISBT name

Mechanism

Amino acid changes

Haplotype

Frequency in Hanc among

Reports

Adsorption-elution positive

Rh-negative

In China

Outside China

RHD(1227G>A)a

RHD*DEL1

Splice site variant

K409K

CDe

96.7%d

21.6%d

13 studiesd

3 studies [9, 54, 55]

RHD(3G>A)

RHD*DEL2

Loss of start codon

M1I

N/R

1.11%

0.25%

4 studies [28, 30, 39, 41]

N/R

RHD-CE(4–9)-D

RHD*DEL44

Hybrid allele

hybrid protein

CDe

0.71%

0.16%

3 studies [28, 30, 43]

N/R

RHD-CE(2–5)-D

N/A

Hybrid allele

hybrid protein

N/R

0.55%

0.12%

4 studies [28,29,30, 43]

N/R

RHD(28C>T)

RHD*01 W.61

Single nucleotide variant

R10W

CDe

0.16%

0.04%

2 studies [28, 39]

GenBank:AM412754

RHD(53T>C)

RHD*DEL3

Single nucleotide variant

L18P

N/R

0.16%

0.04%

2 studies [28, 39]

N/R

RHD(251T>C)

RHD*DEL6

Single nucleotide variant

L84P

N/R

0.16%

0.04%

2 studies [28, 39]

N/R

RHD-CE(4–7)-Db

RHD*01 N.07

Hybrid allele

hybrid protein

cDE

0.16%

0.04%

2 studies [29, 43]

4 studies [9, 55,56,57]

RHD(93T>A)

N/A

Single nucleotide variant

F31L

CDe

0.08%

0.02%

1 study [29]

N/R

RHD(410C>A)

RHD*DEL7

Single nucleotide variant

A137E

CDe

0.08%

0.02%

1 study [28]

N/R

RHD(838G>A)

RHD*DEL24

Single nucleotide variant

A280T

N/R

0.08%

0.02%

1 study [29]

N/R

RHD(IVS7+152C>A,1227G>A)

RHD*DEL36

Splice site variant

K409K

CDe

0.08%

0.02%

1 study [17]

N/R

RHD-RHCE(10)

N/A

Hybrid allele

none

CDe

0.08%

0.02%

1 study [28]

2 studies [56, 58]

  1. N/A not applicable, N/R not reported
  2. aAsian type DEL [49]. The report of a genomic deletion of 1013 bp between introns 8 and 9 including exon 9 of RHD gene, labelled RHD(delEx9), by Chang et al. in 1998 [59] and Peng et al. in 2003 [60] has not been confirmed and is not considered to be an established basis for any DEL phenotype [10]
  3. bPreviously descripted as RhD-negative by Wagner et al. in 2001 [9]
  4. cCumulative frequency of DEL alleles other than Asian type DEL from 13 studies [17, 18, 28,29,30, 39,40,41,42,43,44,45, 47] (see Table 4)
  5. dSee Tables 4