A familial study of C5+cholinesterase and its frequency in the normal population.
A case of familial hypercholinesterasemia was presented. A cholinesterase isoenzyme study revealed the extra C5 band nearer to the cathode than C4 on the gradient polyacrylamide gel electrophoresis in 6 out of 8 subjects in the family. No significant difference in the effect of inhibitors and activator was found when compared with the normal control. We investigated the frequency of variant with C5+cholinesterase in normal healthy subjects. The frequency of the extra C5 band found in the normal healthy population in Japan was 1.2%. It was considered to be clinically useful for differential diagnosis of patients with elevated serum cholinesterase to find subjects with familial hypercholinesterasemia.
Oimomi
M
M
Second Department of Internal Medicine, Kobe University School of Medicine, Japan.
Ohkawa
J
J
Saeki
S
S
Baba
S
S
D002802:Cholinesterases / Q000097:blood / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D007527:Isoenzymes; D002802:Cholinesterases