GP.MOT：在一名日本献血者中发现的一种新型糖蛋白变体。

GP.MOT: A novel glycophorin variant identified in a Japanese blood donor.

机构信息

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

Laboratory, Japanese Red Cross Kinki Block Blood Center, Osaka, Japan.

出版信息

Transfusion. 2021 Oct;61(10):2825-2829. doi: 10.1111/trf.16535. Epub 2021 Aug 9.

DOI:10.1111/trf.16535

PMID:34369596

Abstract

BACKGROUND

In this study, we identified a novel glycophorin variant (GP.MOT) in a Mi -positive Japanese blood donor. The proband with this glycophorin variant was discovered by antigen screening of samples from 475,493 Japanese blood donors using monoclonal anti-Mi .

STUDY DESIGN AND METHODS

Standard serological techniques and flow cytometry were performed. GP.MOT RBCs were examined by immunoblotting using anti-GPA, anti-MUT or anti-Mur. Genome DNA was extracted from whole blood, and the GYPA/GYPB was analyzed by polymerase chain reactions and Sanger sequencing.

RESULTS

The MNS blood group of the proband was M + N + S-s + with the presence of other low-frequency antigens including Mi , Mur, MUT, and KIPP. A 43-kDa molecule, which is almost equivalent in size to glycophorin A (GPA), was identified by immunoblotting using monoclonal anti-MUT and anti-Mur. Sanger sequencing clearly indicated that the proband had two different GYPAM alleles at SNP rs62334651 (GYPAM232 + 55A and GYPAM232 + 55G), as well as a GYP(B-A) hybrid allele (GYPMOT) with breakpoints located on pseudoexon 3 of GYPB from c.210 to c.219.

DISCUSSION

We identified a hybrid glycophorin GP.MOT with the deduced unique amino acid sequence GPB (20-45)-GPΨB (46-70)-GPA (71-149), which has not been previously reported.

摘要

背景

本研究在一名 Mi 阳性的日本献血者中发现了一种新型糖蛋白变异体（GP.MOT）。通过使用抗-Mi 单克隆抗体对 475493 名日本献血者的样本进行抗原筛选，发现了具有这种糖蛋白变异体的先证者。

研究设计和方法

采用标准血清学技术和流式细胞术进行检测。使用抗-GPA、抗-MUT 或抗-Mur 对 GP.MOT RBC 进行免疫印迹分析。从全血中提取基因组 DNA，通过聚合酶链反应和 Sanger 测序分析 GYPA/GYPB。

结果

先证者的 MNS 血型为 M+N+S-s+，同时存在其他低频抗原，包括 Mi、Mur、MUT 和 KIPP。通过使用抗-MUT 和抗-Mur 单克隆抗体进行免疫印迹分析，鉴定出一种 43kDa 的分子，其大小几乎与糖蛋白 A（GPA）相当。Sanger 测序清楚地表明，先证者在 SNP rs62334651 处存在两个不同的 GYPAM 等位基因（GYPAM232+55A 和 GYPAM232+55G），以及一个 GYP(B-A)杂合等位基因（GYPMOT），其断点位于 GYPB 的假外显子 3 上，从 c.210 到 c.219。