A novel A subtype allele that demonstrates allelic competition

Da Woon Kim; Duck Cho; Mark Harris Yazer; Ho Jin Lee; Kyeong Hee Kim; Myung Geun Shin; Soon Pal Suh; Jong Hee Shin; Dong Wook Ryang

A novel A subtype allele that demonstrates allelic competition

Da Woon Kim, Duck Cho, Mark Harris Yazer, Ho Jin Lee, Kyeong Hee Kim, Myung Geun Shin, Soon Pal Suh, Jong Hee Shin, Dong Wook Ryang

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A _w14; 699 C>A, H233Q) was found by sequence analysis of exons 6&7 and in those with the A _w14 allele, complete ABO analysis was performed. The propositus and his son had an A _w phenotype with the A _w14/O01 genotype. His daughter had an A _w14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A _w14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it was co-inherited with a B101 enzyme.

Original language	English
Pages (from-to)	282-284
Number of pages	3
Journal	Annals of Clinical and Laboratory Science
Volume	41
Issue number	3
State	Published - Jun 2011
Externally published	Yes

Keywords

A subtype
ABO discrepancy
Allelic competition

Cite this

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title = "A novel A subtype allele that demonstrates allelic competition",

abstract = "A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A w14; 699 C>A, H233Q) was found by sequence analysis of exons 6\&7 and in those with the A w14 allele, complete ABO analysis was performed. The propositus and his son had an A w phenotype with the A w14/O01 genotype. His daughter had an A w14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A w14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it was co-inherited with a B101 enzyme.",

keywords = "A subtype, ABO discrepancy, Allelic competition",

author = "Kim, \{Da Woon\} and Duck Cho and Yazer, \{Mark Harris\} and Lee, \{Ho Jin\} and Kim, \{Kyeong Hee\} and Shin, \{Myung Geun\} and Suh, \{Soon Pal\} and Shin, \{Jong Hee\} and Ryang, \{Dong Wook\}",

year = "2011",

month = jun,

language = "English",

volume = "41",

pages = "282--284",

journal = "Annals of Clinical and Laboratory Science",

issn = "0091-7370",

publisher = "Association of Clinical Scientists",

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TY - JOUR

T1 - A novel A subtype allele that demonstrates allelic competition

AU - Kim, Da Woon

AU - Cho, Duck

AU - Yazer, Mark Harris

AU - Lee, Ho Jin

AU - Kim, Kyeong Hee

AU - Shin, Myung Geun

AU - Suh, Soon Pal

AU - Shin, Jong Hee

AU - Ryang, Dong Wook

PY - 2011/6

Y1 - 2011/6

N2 - A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A w14; 699 C>A, H233Q) was found by sequence analysis of exons 6&7 and in those with the A w14 allele, complete ABO analysis was performed. The propositus and his son had an A w phenotype with the A w14/O01 genotype. His daughter had an A w14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A w14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it was co-inherited with a B101 enzyme.

AB - A 68-year-old man with an ABO discrepancy discovered during a routine check up and 3 members of his family were referred for ABO analysis. A novel allele (A w14; 699 C>A, H233Q) was found by sequence analysis of exons 6&7 and in those with the A w14 allele, complete ABO analysis was performed. The propositus and his son had an A w phenotype with the A w14/O01 genotype. His daughter had an A w14/B101 genotype with a normal B phenotype. Three-dimensional molecular modelling was used to predict the effect of the H233Q amino acid change on the resulting A glycosyltransferase. The A w14 produced a weak A phenotype, and its ability to produce A antigens was further reduced when it was co-inherited with a B101 enzyme.

KW - A subtype

KW - ABO discrepancy

KW - Allelic competition

UR - https://www.scopus.com/pages/publications/84855391647

M3 - Article

C2 - 22075514

AN - SCOPUS:84855391647

SN - 0091-7370

VL - 41

SP - 282

EP - 284

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

IS - 3

ER -

A novel A subtype allele that demonstrates allelic competition

Abstract

Keywords

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