ABO 547G>A突变体中等位基因竞争的机制与糖基转移酶B活性降低有关。

The Mechanism of Allelic Competition in the ABO 547G>A Mutant is Associated with Decreased Activity of Glycosyltransferase B.

作者信息

Park Geon, Cho Yong Gon

机构信息

Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, Korea.

Department of Laboratory Medicine, Chonbuk National University Medical School, Jeonju, Korea Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Korea

出版信息

Ann Clin Lab Sci. 2016 Winter;46(1):106-9.

PMID:26927353

Abstract

The 547G>A polymorphism demonstrates significant allelic competition in people who harbor the B306 allele. We have performed the full sequencing of ABO gene in family members and measured their serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic study including two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon 7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other son was ABOA102/ABOB306, ABOA105/ABOO02, ABOA102/ABOO02, and ABOB306/ABOO02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normal B controls. We infer that allelic competition in the the 547G>A carrying individuals is associated with reduced activity of glycosyltransferase B.

摘要

547G>A多态性在携带B306等位基因的人群中表现出显著的等位基因竞争。我们对家庭成员的ABO基因进行了全序列测定，并测量了他们的血清糖基转移酶活性，以证明等位基因竞争的原因。对ABO基因包括两个调控区、外显子1以及外显子2至7的遗传学研究表明，先证者及其第二个儿子的外显子7存在c.547G>A。先证者、其丈夫、第一个儿子和另一个儿子的ABO基因型分别为ABOA102/ABOB306、ABOA105/ABOO02、ABOA102/ABOO02和ABOB306/ABOO02。先证者及其第二个儿子的血清糖基转移酶B活性低于正常B对照。我们推断，携带547G>A的个体中的等位基因竞争与糖基转移酶B活性降低有关。