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一种新的B(var)等位基因(547 G>A)表现出取决于共同遗传的ABO等位基因的差异表达。

A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.

作者信息

Cho D, Kim S H, Ki C S, Choi K L, Cho Y G, Song J W, Shin J H, Suh S P, Yazer M H, Ryang D W

机构信息

Department of Laboratory Medicine, Chonnam National University Hospital, Gwangju, South Korea.

出版信息

Vox Sang. 2004 Oct;87(3):187-9. doi: 10.1111/j.1423-0410.2004.00575.x.

DOI:10.1111/j.1423-0410.2004.00575.x
PMID:15569071
Abstract

BACKGROUND AND OBJECTIVES

Genetic analysis of group B donors in Korea was performed.

MATERIALS AND METHODS

Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3.

RESULTS

Consensus sequences all B3 and 2/6 A1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, B(var), in the context of A101/ or A102/B(var) genotypes. Family studies based on an A1B3 donor with the B(var) allele and on another unrelated subject with identical genotype and phenotype revealed B(var)/O01 genotypes with full B-antigen expression.

CONCLUSIONS

B(var) allele is subject to differential expression, depending on the co-inherited ABO allele.

摘要

背景与目的

对韩国B组献血者进行基因分析。

材料与方法

对12名表型为B3的献血者(6名B3、6名A1B3)的外显子6和7进行测序。

结果

所有B3和2/6的A1B3献血者均存在一致序列。4名A1B3献血者在A101/或A102/B(var)基因型背景下表现出一种新的B等位基因,即B(var)。基于一名携带B(var)等位基因的A1B3献血者以及另一名具有相同基因型和表型的无关个体的家系研究显示,B(var)/O01基因型具有完整的B抗原表达。

结论

B(var)等位基因的表达存在差异,取决于共同遗传的ABO等位基因。

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