| Title : [Missense mutations of the butyrylcholinesterase gene in six Japanese patients with low cholinesterasemia: genetic analysis using sera stored in a freezer] - Hidaka_1999_Rinsho.Byori_47_980 |
| Author(s) : Hidaka K , Watanabe Y , Ueda N , Tomita M , Higashi M , Abe K , Minatogawa Y , Iuchi I |
| Ref : Rinsho Byori , 47 :980 , 1999 |
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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. |
| PubMedSearch : Hidaka_1999_Rinsho.Byori_47_980 |
| PubMedID: 10590675 |
Hidaka K, Watanabe Y, Ueda N, Tomita M, Higashi M, Abe K, Minatogawa Y, Iuchi I (1999)
[Missense mutations of the butyrylcholinesterase gene in six Japanese patients with low cholinesterasemia: genetic analysis using sera stored in a freezer]
Rinsho Byori
47 :980
Hidaka K, Watanabe Y, Ueda N, Tomita M, Higashi M, Abe K, Minatogawa Y, Iuchi I (1999)
Rinsho Byori
47 :980