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The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7.

Authors
  • Getman, D K
  • Eubanks, J H
  • Camp, S
  • Evans, G A
  • Taylor, P
Type
Published Article
Journal
American journal of human genetics
Publication Date
Jul 01, 1992
Volume
51
Issue
1
Pages
170–177
Identifiers
PMID: 1609795
Source
Medline
License
Unknown

Abstract

Acetylcholinesterase (AChE) is a secreted enzyme essential for regulating cholinergic neurotransmission at neuronal and neuromuscular synapses. In view of the altered expression of AChE in some central neurological and neuromuscular disorders with a probable genetic basis, we have identified the chromosomal location of the gene encoding AChE. Chromosomal in situ suppression hybridization analysis revealed a single gene to be at 7q22, a result which was confirmed by PCR analysis of genomic DNA from a human/hamster somatic cell hybrid containing a single human chromosome 7. The AChE gene thus maps to the same region in which frequent nonrandom chromosome 7 deletions occur in leukemias of myeloid cell precursors known to express the enzyme during normal differentiation.

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