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

Journal Article · Sat May 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6220584

Bartels, C F; Lockridge, O ^[1]; Zelinski, T ^[2]

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1. Univ. of Nebraska Medical Center, Omaha (United States)
2. Univ. of Manitoba, Winnipeg (Canada)

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. The authors 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. 41 refs., 6 figs., 1 tab.

• OSTI ID: 6220584
• Journal Information: American Journal of Human Genetics; (United States), Vol. 52:5; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
ANTIGENS
GENES
BLOOD GROUPS
CHOLINESTERASE
GENE MUTATIONS
AMINO ACID SEQUENCE
ASPARAGINE
DNA SEQUENCING
ERYTHROCYTES
HISTIDINE
AMIDES
AMINO ACIDS
AZOLES
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CARBOXYLESTERASES
CARBOXYLIC ACIDS
ENZYMES
ESTERASES
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HYDROLASES
IMIDAZOLES
MATERIALS
MOLECULAR STRUCTURE
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics