Evidence for a single butyrylcholinesterase gene in individuals carrying the C 5 plasma cholinesterase variant (CHE2)

Abstract

DNA of 3 unrelated individuals carrying the human plasma butyrylcholinesterase C 5 variant (CHE2) was isolated from white blood cells. Southern blot patterns of DNA restriction fragments probed with each of the 4 butyrylcholinesterase exons provided evidence that the production of C 5 is not directed by a second butyrylcholinesterase gene. This finding supports the suggestion that the C 5 variant is a hybrid enzyme resulting from the association of butyrylcholinesterase subunits with a non-cholinesterase protein.