The mechanism of allelic competition in the ABO 547G>A mutant is associated with decreased activity of glycosyltransferase B

Geon Park; Yong Gon Cho

The mechanism of allelic competition in the ABO 547G>A mutant is associated with decreased activity of glycosyltransferase B

Geon Park
, Yong Gon Cho^*

^*Corresponding author for this work

Department of Medicine

Chosun University

Research output: Contribution to journal › Journal article › peer-review

4 Scopus citations

Abstract

The 547G>A polymorphism demonstrates significant allelic competition in people who harborthe B306 allele. We have performed the full sequencing of ABO gene in family members and measuredtheir serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic studyincluding two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other sonwas ABO*A102/ABO*B306, ABO*A105/ABO*O02, ABO*A102/ABO*O02, and ABO*B306/ABO*O02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normalB controls. We infer that allelic competition in the the 547G>A carrying individuals is associated withreduced activity of glycosyltransferase B.

Original language	English
Pages (from-to)	106-109
Number of pages	4
Journal	Annals of Clinical and Laboratory Science
Volume	46
Issue number	1
State	Published - 2016.01.1

Keywords

ABO discrepancy
Allelic competition
Weak B

Quacquarelli Symonds(QS) Subject Topics

Medicine

Cite this

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title = "The mechanism of allelic competition in the ABO 547G>A mutant is associated with decreased activity of glycosyltransferase B",

abstract = "The 547G>A polymorphism demonstrates significant allelic competition in people who harborthe B306 allele. We have performed the full sequencing of ABO gene in family members and measuredtheir serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic studyincluding two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other sonwas ABO*A102/ABO*B306, ABO*A105/ABO*O02, ABO*A102/ABO*O02, and ABO*B306/ABO*O02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normalB controls. We infer that allelic competition in the the 547G>A carrying individuals is associated withreduced activity of glycosyltransferase B.",

keywords = "ABO discrepancy, Allelic competition, Weak B",

author = "Geon Park and Cho, \{Yong Gon\}",

note = "Publisher Copyright: {\textcopyright} 2016 by the Association of Clinical Scientists, Inc.",

year = "2016",

month = jan,

day = "1",

language = "English",

volume = "46",

pages = "106--109",

journal = "Annals of Clinical and Laboratory Science",

issn = "0091-7370",

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TY - JOUR

T1 - The mechanism of allelic competition in the ABO 547G>A mutant is associated with decreased activity of glycosyltransferase B

AU - Park, Geon

AU - Cho, Yong Gon

PY - 2016/1/1

Y1 - 2016/1/1

N2 - The 547G>A polymorphism demonstrates significant allelic competition in people who harborthe B306 allele. We have performed the full sequencing of ABO gene in family members and measuredtheir serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic studyincluding two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other sonwas ABO*A102/ABO*B306, ABO*A105/ABO*O02, ABO*A102/ABO*O02, and ABO*B306/ABO*O02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normalB controls. We infer that allelic competition in the the 547G>A carrying individuals is associated withreduced activity of glycosyltransferase B.

AB - The 547G>A polymorphism demonstrates significant allelic competition in people who harborthe B306 allele. We have performed the full sequencing of ABO gene in family members and measuredtheir serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic studyincluding two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other sonwas ABO*A102/ABO*B306, ABO*A105/ABO*O02, ABO*A102/ABO*O02, and ABO*B306/ABO*O02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normalB controls. We infer that allelic competition in the the 547G>A carrying individuals is associated withreduced activity of glycosyltransferase B.

KW - ABO discrepancy

KW - Allelic competition

KW - Weak B

UR - https://www.scopus.com/pages/publications/84962260538

M3 - Journal article

C2 - 26927353

AN - SCOPUS:84962260538

SN - 0091-7370

VL - 46

SP - 106

EP - 109

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

IS - 1

ER -

The mechanism of allelic competition in the ABO 547G>A mutant is associated with decreased activity of glycosyltransferase B

Abstract

Keywords

Quacquarelli Symonds(QS) Subject Topics

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