Maekawa_1995_Clin.Chim.Acta_235_41

Reference

Title : Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes - Maekawa_1995_Clin.Chim.Acta_235_41
Author(s) : Maekawa M , Sudo K , Kanno T , Kotani K , Dey DC , Ishikawa J , Izumi M , Etoh K
Ref : Clinica Chimica Acta , 235 :41 , 1995
Abstract : Three Japanese patients showed very low butyrylcholinesterase activity in their sera and appeared to be homozygous for silent genes for butyrylcholinesterase. From DNA analysis, all three patients were compound heterozygotes: GGA(Gly) to CGA(Arg) at codon 365 (G365R) and TTC(Phe) to TCC(Ser) at codon 418 (F418S) in patient 1, G365R and CGT(Arg) to TGT(Cys) at codon 515 (R515C) in patient 2 and ACT(Thr) to CCT(Pro) at codon 250 (T250P) and AGA(Arg) to TGA(Stop) at codon 465 (R465X) in patient 3. The K-variant, GCA(Ala) to ACA(Thr) at codon 539, was also found in patients 1 and 2. Simple identification methods for all the mutations were developed and applied to family analysis and control individuals. The mutant alleles (with silent gene and K-variant) were segregated as predicted by theory in pedigrees of patients 1 and 2. Four of the mutations, F418S, R515C, T250P and R465X, were initially discovered in Japan and genetic heterogeneity among the human population for the butyrylcholinesterase gene was suggested.
ESTHER : Maekawa_1995_Clin.Chim.Acta_235_41
PubMedSearch : Maekawa_1995_Clin.Chim.Acta_235_41
PubMedID: 7634491

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Citations formats

Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K (1995)
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes
Clinica Chimica Acta 235 :41

Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K (1995)
Clinica Chimica Acta 235 :41