Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele
Background CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a re...
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| Veröffentlicht in: | Journal of clinical laboratory analysis 2020-01, Vol.34 (1), p.e23005-n/a |
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| container_title | Journal of clinical laboratory analysis |
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| creator | Jin, Chenxi Li, Zhikun Zheng, Xiaodi Shen, Kailin Chao, Jiashuo Dong, Yifei Huang, Qin Yin, Qiulin Deng, Yan Zhu, Weifeng |
| description | Background
CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism.
Methods
Tetra‐primer amplification refractory mutation system‐polymerase chain reaction (T‐ARMS‐PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T‐ARMS‐PCR were validated by DNA sequencing.
Results
There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T‐ARMS‐PCR results.
Conclusion
T‐ARMS‐PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process. |
| doi_str_mv | 10.1002/jcla.23005 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6977150</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2335173467</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4205-677ca255875b52bd65abc6072d8e08ab611e95f96ffb7ab7259699ebee93ba1c3</originalsourceid><addsrcrecordid>eNp9kMlOwzAURS0EomXY8AEoS4QUsJ162iBVYVYRFcOClWU7LxDkxiVJi7rjE_hGvoSUQgUbVnfxjs67ugjtEHxAMKaHz86bA5pgzFZQl2AlYyopW0VdLKWIJSZJB23U9TPGWCrC11EnIb1eC7IuOjuGKfgwHkHZRKbMoqnxRWaaIpRRyKO7j7f3_s3VbRvD9CZqQpRBA66J0ochTYkiIjLeg4cttJYbX8P2d26i-9OTu_Q8HlyfXaT9Qex6FLOYC-EMZUwKZhm1GWfGOo4FzSRgaSwnBBTLFc9zK4wVlCmuFFgAlVhDXLKJjhbe8cSOIHNt7cp4Pa6KkalmOphC_72UxZN-DFPNlRCE4Vaw9y2owssE6kaPitqB96aEMKk1TRJGRNLjokX3F6irQl1XkC_fEKzny-v58vpr-Rbe_V1sif5M3QJkAbwWHmb_qPRlOugvpJ-pv47N</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2335173467</pqid></control><display><type>article</type><title>Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele</title><source>MEDLINE</source><source>DOAJ Directory of Open Access Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Wiley-Blackwell Open Access Titles</source><source>Wiley Online Library All Journals</source><source>PubMed Central</source><creator>Jin, Chenxi ; Li, Zhikun ; Zheng, Xiaodi ; Shen, Kailin ; Chao, Jiashuo ; Dong, Yifei ; Huang, Qin ; Yin, Qiulin ; Deng, Yan ; Zhu, Weifeng</creator><creatorcontrib>Jin, Chenxi ; Li, Zhikun ; Zheng, Xiaodi ; Shen, Kailin ; Chao, Jiashuo ; Dong, Yifei ; Huang, Qin ; Yin, Qiulin ; Deng, Yan ; Zhu, Weifeng</creatorcontrib><description>Background
CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism.
Methods
Tetra‐primer amplification refractory mutation system‐polymerase chain reaction (T‐ARMS‐PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T‐ARMS‐PCR were validated by DNA sequencing.
Results
There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T‐ARMS‐PCR results.
Conclusion
T‐ARMS‐PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.</description><identifier>ISSN: 0887-8013</identifier><identifier>EISSN: 1098-2825</identifier><identifier>DOI: 10.1002/jcla.23005</identifier><identifier>PMID: 31441095</identifier><language>eng</language><publisher>United States: John Wiley and Sons Inc</publisher><subject>Alleles ; Base Sequence ; CYP2C19 ; CYP2C1917 ; Cytochrome P-450 CYP2C19 - genetics ; genotyping ; Humans ; Mutation - genetics ; Polymerase Chain Reaction - methods ; single nucleotide polymorphism ; T‐ARMS‐PCR</subject><ispartof>Journal of clinical laboratory analysis, 2020-01, Vol.34 (1), p.e23005-n/a</ispartof><rights>2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc</rights><rights>2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4205-677ca255875b52bd65abc6072d8e08ab611e95f96ffb7ab7259699ebee93ba1c3</citedby><cites>FETCH-LOGICAL-c4205-677ca255875b52bd65abc6072d8e08ab611e95f96ffb7ab7259699ebee93ba1c3</cites><orcidid>0000-0001-7616-6718</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977150/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977150/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,1417,11561,27923,27924,45573,45574,46051,46475,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31441095$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jin, Chenxi</creatorcontrib><creatorcontrib>Li, Zhikun</creatorcontrib><creatorcontrib>Zheng, Xiaodi</creatorcontrib><creatorcontrib>Shen, Kailin</creatorcontrib><creatorcontrib>Chao, Jiashuo</creatorcontrib><creatorcontrib>Dong, Yifei</creatorcontrib><creatorcontrib>Huang, Qin</creatorcontrib><creatorcontrib>Yin, Qiulin</creatorcontrib><creatorcontrib>Deng, Yan</creatorcontrib><creatorcontrib>Zhu, Weifeng</creatorcontrib><title>Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele</title><title>Journal of clinical laboratory analysis</title><addtitle>J Clin Lab Anal</addtitle><description>Background
CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism.
Methods
Tetra‐primer amplification refractory mutation system‐polymerase chain reaction (T‐ARMS‐PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T‐ARMS‐PCR were validated by DNA sequencing.
Results
There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T‐ARMS‐PCR results.
Conclusion
T‐ARMS‐PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>CYP2C19</subject><subject>CYP2C1917</subject><subject>Cytochrome P-450 CYP2C19 - genetics</subject><subject>genotyping</subject><subject>Humans</subject><subject>Mutation - genetics</subject><subject>Polymerase Chain Reaction - methods</subject><subject>single nucleotide polymorphism</subject><subject>T‐ARMS‐PCR</subject><issn>0887-8013</issn><issn>1098-2825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><recordid>eNp9kMlOwzAURS0EomXY8AEoS4QUsJ162iBVYVYRFcOClWU7LxDkxiVJi7rjE_hGvoSUQgUbVnfxjs67ugjtEHxAMKaHz86bA5pgzFZQl2AlYyopW0VdLKWIJSZJB23U9TPGWCrC11EnIb1eC7IuOjuGKfgwHkHZRKbMoqnxRWaaIpRRyKO7j7f3_s3VbRvD9CZqQpRBA66J0ochTYkiIjLeg4cttJYbX8P2d26i-9OTu_Q8HlyfXaT9Qex6FLOYC-EMZUwKZhm1GWfGOo4FzSRgaSwnBBTLFc9zK4wVlCmuFFgAlVhDXLKJjhbe8cSOIHNt7cp4Pa6KkalmOphC_72UxZN-DFPNlRCE4Vaw9y2owssE6kaPitqB96aEMKk1TRJGRNLjokX3F6irQl1XkC_fEKzny-v58vpr-Rbe_V1sif5M3QJkAbwWHmb_qPRlOugvpJ-pv47N</recordid><startdate>202001</startdate><enddate>202001</enddate><creator>Jin, Chenxi</creator><creator>Li, Zhikun</creator><creator>Zheng, Xiaodi</creator><creator>Shen, Kailin</creator><creator>Chao, Jiashuo</creator><creator>Dong, Yifei</creator><creator>Huang, Qin</creator><creator>Yin, Qiulin</creator><creator>Deng, Yan</creator><creator>Zhu, Weifeng</creator><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>WIN</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><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-7616-6718</orcidid></search><sort><creationdate>202001</creationdate><title>Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele</title><author>Jin, Chenxi ; Li, Zhikun ; Zheng, Xiaodi ; Shen, Kailin ; Chao, Jiashuo ; Dong, Yifei ; Huang, Qin ; Yin, Qiulin ; Deng, Yan ; Zhu, Weifeng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4205-677ca255875b52bd65abc6072d8e08ab611e95f96ffb7ab7259699ebee93ba1c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>CYP2C19</topic><topic>CYP2C1917</topic><topic>Cytochrome P-450 CYP2C19 - genetics</topic><topic>genotyping</topic><topic>Humans</topic><topic>Mutation - genetics</topic><topic>Polymerase Chain Reaction - methods</topic><topic>single nucleotide polymorphism</topic><topic>T‐ARMS‐PCR</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jin, Chenxi</creatorcontrib><creatorcontrib>Li, Zhikun</creatorcontrib><creatorcontrib>Zheng, Xiaodi</creatorcontrib><creatorcontrib>Shen, Kailin</creatorcontrib><creatorcontrib>Chao, Jiashuo</creatorcontrib><creatorcontrib>Dong, Yifei</creatorcontrib><creatorcontrib>Huang, Qin</creatorcontrib><creatorcontrib>Yin, Qiulin</creatorcontrib><creatorcontrib>Deng, Yan</creatorcontrib><creatorcontrib>Zhu, Weifeng</creatorcontrib><collection>Wiley-Blackwell Open Access Titles</collection><collection>Wiley Free Content</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of clinical laboratory analysis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jin, Chenxi</au><au>Li, Zhikun</au><au>Zheng, Xiaodi</au><au>Shen, Kailin</au><au>Chao, Jiashuo</au><au>Dong, Yifei</au><au>Huang, Qin</au><au>Yin, Qiulin</au><au>Deng, Yan</au><au>Zhu, Weifeng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele</atitle><jtitle>Journal of clinical laboratory analysis</jtitle><addtitle>J Clin Lab Anal</addtitle><date>2020-01</date><risdate>2020</risdate><volume>34</volume><issue>1</issue><spage>e23005</spage><epage>n/a</epage><pages>e23005-n/a</pages><issn>0887-8013</issn><eissn>1098-2825</eissn><abstract>Background
CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism.
Methods
Tetra‐primer amplification refractory mutation system‐polymerase chain reaction (T‐ARMS‐PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T‐ARMS‐PCR were validated by DNA sequencing.
Results
There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T‐ARMS‐PCR results.
Conclusion
T‐ARMS‐PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.</abstract><cop>United States</cop><pub>John Wiley and Sons Inc</pub><pmid>31441095</pmid><doi>10.1002/jcla.23005</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-7616-6718</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Wiley-Blackwell Open Access Titles; Wiley Online Library All Journals; PubMed Central |
| subjects | Alleles Base Sequence CYP2C19 CYP2C1917 Cytochrome P-450 CYP2C19 - genetics genotyping Humans Mutation - genetics Polymerase Chain Reaction - methods single nucleotide polymorphism T‐ARMS‐PCR |
| title | Development and validation of T‐ARMS‐PCR to detect CYP2C1917 allele |
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