A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese

T Onodera; H Tsuneyama; K Ogasawara; K Isa; M Satake; K Tadokoro; M Uchikawa

doi:10.1111/vox.12260

A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese

Vox Sang. 2015 Aug;109(2):191-3. doi: 10.1111/vox.12260. Epub 2015 Apr 10.

Authors

T Onodera¹, H Tsuneyama¹, K Ogasawara², K Isa², M Satake², K Tadokoro², M Uchikawa¹

Affiliations

¹ Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
² Japanese Red Cross Central Blood Institute, Tokyo, Japan.

PMID: 25865759
DOI: 10.1111/vox.12260

Abstract

The Dombrock blood group system consists of two antithetical antigens, Do(a) (DO1) and Do(b) (DO2), and seven high-prevalence antigens, Gy(a) (DO3), Hy (DO4), Jo(a) (DO5), DOYA (DO6), DOMR (DO7), DOLG (DO8) and DOLC (DO9). Do(a) /Do(b) polymorphism is associated with c.793A>G (p.Asn265Asp) in exon 2 of the DO (ART4) gene, and the corresponding alleles are named DO*01 and DO*02. The rare Donull or Gy(a-) phenotype lacks all Dombrock antigens, and the DO null alleles vary with both DO*01 and DO*02 backgrounds. We report a novel DO null allele, which has a c.268C>T (p.Gln90Stop) nonsense mutation with a DO*02 background identified from four unrelated Gy(a-) Japanese individuals.

Keywords: DO null allele; Dombrock blood group; Gy(a-).

MeSH terms

Alleles*
Base Sequence
Blood Group Antigens / genetics*
Codon, Nonsense*
Humans
Japan
Molecular Sequence Data

Substances

Blood Group Antigens
Codon, Nonsense

Associated data

GENBANK/LC011479