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 |
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| container_title | Internal Medicine |
| container_volume | 34 |
| creator | HIRASAKI, Shoji KOIDE, Norio UJIKE, Kozo YAMAMOTO, Hiroyuki FUJITA, Yasuo TANIGAWA, Takashi |
| description | 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) |
| doi_str_mv | 10.2169/internalmedicine.34.632 |
| format | Article |
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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. 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Med.</addtitle><description>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)</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cholinesterases - deficiency</subject><subject>Cholinesterases - genetics</subject><subject>DNA - analysis</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Frameshift Mutation - genetics</subject><subject>gene analysis</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Middle Aged</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>silent gene</subject><subject>succinylcholine</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplUE1P4zAUtBCr0i38BEQOiFu68Ufs-IgK3SIh7UoLZ-v19ZkaJSnYqVD__Rq16gEu48PMvBkPY1e8mgqu7a_QDxR7aDtaBQw9TaWaailO2JhLZUsjZH3KxpXlTSkynLGfKb1WlWyMFSM2Msrqyogxa26LOXSh3RUfYVgXC4r54ABxV_yjuO2K2XrT5vMpp0Gi4o58jqMed-fsh4c20cXhnbDn-f3TbFE-_vn9MLt9LFEZPZQaeG0AuciwqlF40ohekfACiND7uqnUiqsGkFA3y6WBBishV0DSc9vICbvZ332Lm_dtLuK6kJDaFnrabJMzprZKZ8eEmb0Q4yalSN69xdDlnzheuc_N3NfNnFQub5adl4eI7TJzR99hpMxfH3hICK2P0GNIR5nUtVK6zrK_e9lrGuCFjjzEIWBL3-K5teKzgtlDbnKU4hqio17-B5ePmHY</recordid><startdate>1995</startdate><enddate>1995</enddate><creator>HIRASAKI, Shoji</creator><creator>KOIDE, Norio</creator><creator>UJIKE, Kozo</creator><creator>YAMAMOTO, Hiroyuki</creator><creator>FUJITA, Yasuo</creator><creator>TANIGAWA, Takashi</creator><general>The Japanese Society of Internal Medicine</general><general>Japanese Society of Internal Medicine</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>1995</creationdate><title>A Family with Hereditary Serum Cholinesterase Deficiency</title><author>HIRASAKI, Shoji ; KOIDE, Norio ; UJIKE, Kozo ; YAMAMOTO, Hiroyuki ; FUJITA, Yasuo ; TANIGAWA, Takashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-6a157ac127acd5c2fe6ccf4e2f2aeecff5804d148acec68bb7a8c023dae3f1983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cholinesterases - deficiency</topic><topic>Cholinesterases - genetics</topic><topic>DNA - analysis</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Frameshift Mutation - genetics</topic><topic>gene analysis</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>Middle Aged</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>silent gene</topic><topic>succinylcholine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HIRASAKI, Shoji</creatorcontrib><creatorcontrib>KOIDE, Norio</creatorcontrib><creatorcontrib>UJIKE, Kozo</creatorcontrib><creatorcontrib>YAMAMOTO, Hiroyuki</creatorcontrib><creatorcontrib>FUJITA, Yasuo</creatorcontrib><creatorcontrib>TANIGAWA, Takashi</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HIRASAKI, Shoji</au><au>KOIDE, Norio</au><au>UJIKE, Kozo</au><au>YAMAMOTO, Hiroyuki</au><au>FUJITA, Yasuo</au><au>TANIGAWA, Takashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Family with Hereditary Serum Cholinesterase Deficiency</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>1995</date><risdate>1995</risdate><volume>34</volume><issue>7</issue><spage>632</spage><epage>635</epage><pages>632-635</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>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)</abstract><cop>Tokyo</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>7496072</pmid><doi>10.2169/internalmedicine.34.632</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Internal Medicine, 1995, Vol.34(7), pp.632-635 |
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| language | eng |
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| source | J-STAGE Free; MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | 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 |
| title | A Family with Hereditary Serum Cholinesterase Deficiency |
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