Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes

Maekawa, Masato; Sudo, Kayoko; Kanno, Takashi; Kotani, Kazuo; Dey, Dilip; Ishikawa, Jinko; Izumi, Masakazu; Etoh, Koki

doi:10.1016/0009-8981(95)06014-1

Cited by 24 publications

(6 citation statements)

References 30 publications

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“…The P100S, L330I, G365R, and R515C were only found in Japanese, whereas A (G70D), F-1 (T243M), F-2 (G390V), J (E490V), and H (V142M) variants existed mostly in European, American, and Australian populations. [1,2,[7][8][9][10][11][12][13] K-variant polymorphism has a similar high frequency (> 0.1) in Americans, Chinese, Italian, Australian, and Japanese. [1,2,8] However, the K-variant was not found in Georgian and Ashkenazi Jews.…”

Section: Reprintsmentioning

confidence: 99%

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Butyrylcholinesterase Gene Polymorphism

Liu¹,

Hada²

2004

Encyclopedia of Medical Genomics and Proteomics

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Section: Reprintsmentioning

confidence: 99%

“…After the sizes and homogeneity of the PCR products are confirmed by agarose gels stained with ethidium bromide, direct sequencing is performed using a dye terminator cycle sequencing core kit and a DNA sequencer. [9,10] The primers used for PCR and sequence are listed in Table 1.…”

Section: Genetic Polymorphismmentioning

confidence: 99%

Butyrylcholinesterase Gene Polymorphism

Liu¹,

Hada²

2004

Encyclopedia of Medical Genomics and Proteomics

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“…9 Since exon 2 is very large for SSCP analysis, it was divided into seven overlapping fragments for PCR and subsequent . Precautions were taken to prevent DNA contamination in either reagents or DNA samples.…”

Section: Subjectsmentioning

confidence: 99%

Butyrylcholinesterase Genes in Individuals with Abnormal Inhibition Numbers and with Trace Activity: One Common Mutation and Two Novel Silent Genes

et al. 1998

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A random population was screened for abnormal dibucaine and fluoride numbers (DN & FN) to find some common mutations in butyrylcholinesterase ( BCHE) gene. Of 2375 unrelated individuals, 10 were found to have low DN and FN and were selected for further studies. DNA analysis of these hypocholinesterasemics revealed that seven patients were heterozygous for missense mutation at codon 330 (TTA to ATA; BCHE*330I). The frequency of BCHE*330I mutation was calculated to be at least 0.29% among the Japanese. On the other hand, two novel mutations were found in three families and two individuals including probands whose enzyme activity was very low (silent gene). Polymerase chain reaction and single stranded conformation polymorphism (PCR-SSCP) and restriction fragment length polymorphism (PCR-RFLP) were used for identification of the common and known mutation types such as BCHE*250P (ACT to CCT), BCHE*365R (GGA to CGA), and BCHE*539T (GCA to ACA; K-polymorphism), whereas PCR-SSCP was used in combination with direct DNA sequencing for new mutations like BCHE*446V (TTT to GTT) and BCHE*451X (GAA to TAA).

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“…The primers for exon 2 were the same as those described by Maekawaet al (7). The primers for exons 3 and 4 were newly designed for this study (Table 1).…”

Section: Enzymeassaymentioning

confidence: 99%

“…Thus, it is important to evaluate the levels of serum ChE in all patients. DNAsequencing of serum ChE has already been accomplished (1 , 2) and several genetic variants causing a-or hypocholinesterasemia have been reported (3)(4)(5)(6)(7). In the present study, we carried out gene analysis of familial hypocholinesterasemia in a family of five.…”

Section: Introductionmentioning

confidence: 99%

Familial Hypocholinesterasemia Found in a Family and a New Confirmed Mutation.

et al. 1997

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A 45-year-old man was hospitalized because of acute hepatitis. His serum cholinesterase (ChE) was below 10 IU/1 (normal range: 105-240 IlW) during the disease course and after his recovery. The patient was suspected of having familial hypocholinesterasemia. His family members were healthy except that his father had hypertension and gall stones. Analysis of ChE gene in the propositus and his family revealed three point mutations at nucleotides 298 (CCAto TCA), 1,410 (CGTto CGG)and 1,615 (GCAto ACA). The first mutation caused an amino acid change at codon 100 from proline to serine, which was a newmutation not previously reported, but the second one was a silent mutation. The third mutation resulted in an aminoacid alteration from alanine to threonine at codon 539 in exon 4 of the ChEgene. The modeof transmission of these mutations is described. (Internal Medicine 36: 9-13, 1997)

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Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes

Cited by 24 publications

References 30 publications

Butyrylcholinesterase Gene Polymorphism

Butyrylcholinesterase Gene Polymorphism

Butyrylcholinesterase Genes in Individuals with Abnormal Inhibition Numbers and with Trace Activity: One Common Mutation and Two Novel Silent Genes

Familial Hypocholinesterasemia Found in a Family and a New Confirmed Mutation.

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