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Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan

¹ Clinical Laboratory, National Cancer Center Hospital, Tsukiji 5-chome, Chuo-ku, Tokyo, 104 Japan.

² Department of Laboratory Medicine, Jikei University School of Medicine, The Daisan Hospital, 4-11-1 Izumi-honcho, Komae, 201 Japan.

³ Department of Laboratory Medicine, Hamamatsu University School of Medicine, Handa-cho 3600, Hamamatsu City, 431–31 Japan.
^a Author for correspondence. Fax 81-3-3542-3815; e-mail mmaekawa{at}gan2.ncc.go.jp

We have identified 12 kinds of genetic mutations of butyrylcholine esterase (BCHE) from phenotypic abnormalities, showing that BCHE activities were deficient or diminished in sera. These genetic mutations, detected by PCR–single-strand conformation polymorphism analysis and direct sequencing, consisted of one deletion (BCHE*FS4), nine missense (BCHE*24 M, *100S, *250P, *267R, *330I, *365R, *418S, *515C, *539T), and two nonsense mutations (BCHE*119STOP, *465STOP). All of the individuals deficient in serum BCHE activity were homozygous for silent genes (6 of 6). Fifty-eight percent of the individuals (31 of 53) with slightly reduced serum BCHE activity were heterozygous for silent genes. They also showed a higher frequency (47% as allele frequency) of the K-variant than the general population (17.5%). Finally, we confirmed low serum BCHE activity in 10 of 23 individuals heterozygous for silent genes.

Key Words: indexing terms: PCR • single-strand conformation polymorphism • deletion mutation • missense mutation • nonsense mutation • genotype:phenotype correlation

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