[Missense mutations of the butyrylcholinesterase gene in six Japanese patients with low cholinesterasemia: genetic analysis using sera stored in a freezer]

K Hidaka; Y Watanabe; N Ueda; M Tomita; M Higashi; K Abe; Y Minatogawa; I Iuchi

[Missense mutations of the butyrylcholinesterase gene in six Japanese patients with low cholinesterasemia: genetic analysis using sera stored in a freezer]

Rinsho Byori. 1999 Oct;47(10):980-2.

[Article in Japanese]

Authors

K Hidaka¹, Y Watanabe, N Ueda, M Tomita, M Higashi, K Abe, Y Minatogawa, I Iuchi

Affiliation

¹ Department of Biochemistry, Kawasaki Medical School, Kurashiki.

PMID: 10590675

Abstract

Six serum samples with no detectable butyrylcholinesterase (BCHE) activity had been stored at -70 degrees C for more than 10 years. These sera were used for amplification of BCHE gene using polymerase chain reaction (PCR) and for nucleotide sequence analysis. Five of them demonstrated a C-->T transition at codon 100 (CCA-->TCA), resulting in a Pro-->Ser substitution. The other one was a compound heterozygote as revealed a T-->C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and G-->C transversion at codon 365 from GGA (Gly) to CGA (Arg). These results showed sera stored in a freezer could be used as a starting material for amplification of genomic DNA when it is not possible to obtain fresh blood samples.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Blood Preservation
Butyrylcholinesterase / blood
Butyrylcholinesterase / genetics*
Cholinesterases / deficiency*
Cryopreservation*
Humans
Japan
Mutation, Missense*
Polymerase Chain Reaction
Sequence Analysis, DNA

Substances

Butyrylcholinesterase
Cholinesterases