A Family with Hereditary Serum Cholinesterase Deficiency
| ISSN: | 1349-7235 0918-2918 |
|---|---|
| DOI: | 10.2169/internalmedicine.34.632 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0ffd014f91526b1fade26fb81086c1 https://doi.org/10.2169/internalmedicine.34.632 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....da0ffd014f91526b1fade26fb81086c1 |
| Autor: | Kozo Ujike, Hiroyuki Yamamoto, Yasuo Fujita, Norio Koide, Shoji Hirasaki, Takashi Tanigawa |
| Rok vydání: | 1995 |
| Předmět: |
Molecular Sequence Data
Frameshift mutation law.invention law Gene duplication Internal Medicine Cholinesterases Humans Medicine Sche Frameshift Mutation Gene Polymerase chain reaction Cholinesterase Base Sequence biology business.industry Heterozygote advantage DNA General Medicine Middle Aged Molecular biology Stop codon Pedigree biology.protein Female business Metabolism Inborn Errors |
| Zdroj: | Internal Medicine. 34:632-635 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.34.632 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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