[Missense mutations of the butyrylcholinesterase gene in six Japanese patients with low cholinesterasemia: genetic analysis using sera stored in a freezer].
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.
Hidaka
K
K
Department of Biochemistry, Kawasaki Medical School, Kurashiki.
Watanabe
Y
Y
Ueda
N
N
Tomita
M
M
Higashi
M
M
Abe
K
K
Minatogawa
Y
Y
Iuchi
I
I
D044466:Asian People; D001793:Blood Preservation; D002091:Butyrylcholinesterase / Q000097:blood / Q000235:genetics*; D002802:Cholinesterases / Q000172:deficiency*; D015925:Cryopreservation; D006801:Humans; D007564:Japan; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D002091:Butyrylcholinesterase; D002802:Cholinesterases