A Family with Hereditary Serum Cholinesterase Deficiency

A Family with Hereditary Serum Cholinesterase Deficiency

A family with serum cholinesterase (SChE) deficiency is reported. A 64-year-old woman was admitted for the excision of colon adenoma: her laboratory data revealed a markedly decreased level of SChE. SChE genes of the patient and her family members were amplified by the polymerase chain reaction (PCR...

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Veröffentlicht in:Internal Medicine 1995, Vol.34(7), pp.632-635
Hauptverfasser: HIRASAKI, Shoji, KOIDE, Norio, UJIKE, Kozo, YAMAMOTO, Hiroyuki, FUJITA, Yasuo, TANIGAWA, Takashi
Format: Artikel
Sprache:eng
Schlagworte:
Base Sequence
Biological and medical sciences
Cholinesterases - deficiency
Cholinesterases - genetics
DNA - analysis
Errors of metabolism
Female
Frameshift Mutation - genetics
gene analysis
Humans
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - genetics
Middle Aged
Miscellaneous hereditary metabolic disorders
Molecular Sequence Data
Pedigree
silent gene
succinylcholine
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Zusammenfassung:A family with serum cholinesterase (SChE) deficiency is reported. A 64-year-old woman was admitted for the excision of colon adenoma: her laboratory data revealed a markedly decreased level of SChE. SChE genes of the patient and her family members were amplified by the polymerase chain reaction (PCR) and analyzed by direct sequencing. The patient's SChE gene had a homozygous frame shift mutation, in which an extra adenine was inserted in codon 315 (ACC→AACC), resulting in the appearance of a new stop codon in codon 322. The family study disclosed that her brother and sister had the same frame shift mutations in homozygote and heterozygote, respectively. (Internal Medicine 34: 632-635, 1995)
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.34.632