在日本人中发现一种具有c.268C>T（p.Gln90Stop）突变的新型DO无效等位基因。

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

作者信息

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

机构信息

Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.

Japanese Red Cross Central Blood Institute, Tokyo, Japan.

出版信息

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

DOI:10.1111/vox.12260

PMID:25865759

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 DO01 and DO02. The rare Donull or Gy(a-) phenotype lacks all Dombrock antigens, and the DO null alleles vary with both DO01 and DO02 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.

摘要

多姆布罗克血型系统由两种对立抗原，即杜（a）（DO1）和杜（b）（DO2），以及七种高频抗原，即吉（a）（DO3）、海（DO4）、乔（a）（DO5）、多亚（DO6）、多姆尔（DO7）、多利格（DO8）和多利克（DO9）组成。杜（a）/杜（b）多态性与DO（ART4）基因第2外显子中的c.793A>G（p.Asn265Asp）相关，相应的等位基因命名为DO01和DO02。罕见的杜缺失型或吉（a-）表型缺乏所有多姆布罗克抗原，且DO缺失等位基因在DO01和DO02背景下均有所不同。我们报告了一个新的DO缺失等位基因，其具有c.268C>T（p.Gln90Stop）无义突变，背景为DO*02，该等位基因是从四名不相关的日本吉（a-）个体中鉴定出来的。