Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism

Cynthia F. Bartels, Teresa Zelinski, Oksana Lockridge

Research output: Contribution to journalArticle

70 Citations (Scopus)

Abstract

Acetylcholinesterase is present in innervated tissues, where its function is to terminate nerve impulse transmission. It is also found in the red blood cell membrane, where its function is unknown. We report the first genetic variant of human acetylcholinesterase and support the identity of acetylcholinesterase as the YT blood group antigen. DNA sequencing shows that the wild-type sequence of acetylcholinesterase with His322 (CAC) is the YT1 blood group antigen and that the rare variant of acetylcholinesterase with Asn322 (AAC) is the YT2 blood group antigen. Two additional point mutations in the acetylcholinesterase gene do not affect the amino acid sequence of the mature enzyme.

Original languageEnglish (US)
Pages (from-to)928-936
Number of pages9
JournalAmerican Journal of Human Genetics
Volume52
Issue number5
StatePublished - May 1 1993

Fingerprint

Acetylcholinesterase
Blood Group Antigens
Codon
Mutation
Genes
Medical Genetics
DNA Sequence Analysis
Point Mutation
Action Potentials
Amino Acid Sequence
Erythrocytes
Cell Membrane
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism. / Bartels, Cynthia F.; Zelinski, Teresa; Lockridge, Oksana.

In: American Journal of Human Genetics, Vol. 52, No. 5, 01.05.1993, p. 928-936.

Research output: Contribution to journalArticle

@article{3a7faa664b874c6fa7e8fb2321cbd7ac,
title = "Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism",
abstract = "Acetylcholinesterase is present in innervated tissues, where its function is to terminate nerve impulse transmission. It is also found in the red blood cell membrane, where its function is unknown. We report the first genetic variant of human acetylcholinesterase and support the identity of acetylcholinesterase as the YT blood group antigen. DNA sequencing shows that the wild-type sequence of acetylcholinesterase with His322 (CAC) is the YT1 blood group antigen and that the rare variant of acetylcholinesterase with Asn322 (AAC) is the YT2 blood group antigen. Two additional point mutations in the acetylcholinesterase gene do not affect the amino acid sequence of the mature enzyme.",
author = "Bartels, {Cynthia F.} and Teresa Zelinski and Oksana Lockridge",
year = "1993",
month = "5",
day = "1",
language = "English (US)",
volume = "52",
pages = "928--936",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",

}

TY - JOUR

T1 - Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism

AU - Bartels, Cynthia F.

AU - Zelinski, Teresa

AU - Lockridge, Oksana

PY - 1993/5/1

Y1 - 1993/5/1

N2 - Acetylcholinesterase is present in innervated tissues, where its function is to terminate nerve impulse transmission. It is also found in the red blood cell membrane, where its function is unknown. We report the first genetic variant of human acetylcholinesterase and support the identity of acetylcholinesterase as the YT blood group antigen. DNA sequencing shows that the wild-type sequence of acetylcholinesterase with His322 (CAC) is the YT1 blood group antigen and that the rare variant of acetylcholinesterase with Asn322 (AAC) is the YT2 blood group antigen. Two additional point mutations in the acetylcholinesterase gene do not affect the amino acid sequence of the mature enzyme.

AB - Acetylcholinesterase is present in innervated tissues, where its function is to terminate nerve impulse transmission. It is also found in the red blood cell membrane, where its function is unknown. We report the first genetic variant of human acetylcholinesterase and support the identity of acetylcholinesterase as the YT blood group antigen. DNA sequencing shows that the wild-type sequence of acetylcholinesterase with His322 (CAC) is the YT1 blood group antigen and that the rare variant of acetylcholinesterase with Asn322 (AAC) is the YT2 blood group antigen. Two additional point mutations in the acetylcholinesterase gene do not affect the amino acid sequence of the mature enzyme.

UR - http://www.scopus.com/inward/record.url?scp=0027517150&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027517150&partnerID=8YFLogxK

M3 - Article

C2 - 8488842

AN - SCOPUS:0027517150

VL - 52

SP - 928

EP - 936

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -