The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7
Getman, D.K.; Eubanks, J.H.; Camp, S.; Evans, G.A.; Taylor, P.
American Journal of Human Genetics 51(1): 170-177
ISSN/ISBN: 0002-9297 PMID: 1609795 Accession: 007905417
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.