点突变检测方法:性能和质量评价。IFCC科学分部,分子生物学技术委员会。

P. Nollau, C. Wagener
{"title":"点突变检测方法:性能和质量评价。IFCC科学分部,分子生物学技术委员会。","authors":"P. Nollau, C. Wagener","doi":"10.1093/clinchem/43.7.1114","DOIUrl":null,"url":null,"abstract":"We give an overview of current methods for the detection of point mutations as well as small insertions and deletions in clinical diagnostics. For each method, the following characteristics are specified: (a) principle, (b) major modifications, (c) maximum fragment size that can be analyzed, (d) ratio and type of mutations that can be detected (e) minimum ratio of mutant to wild-type alleles at which mutations can be detected, and (j) detection methods. Special attention is paid to the possibilities of quality assessment and the potential for standardization and automation.","PeriodicalId":80043,"journal":{"name":"Journal of the International Federation of Clinical Chemistry","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1997-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/clinchem/43.7.1114","citationCount":"111","resultStr":"{\"title\":\"Methods for detection of point mutations: performance and quality assessment. The IFCC Scientific Division, Committee on Molecular Biology Techniques.\",\"authors\":\"P. Nollau, C. Wagener\",\"doi\":\"10.1093/clinchem/43.7.1114\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We give an overview of current methods for the detection of point mutations as well as small insertions and deletions in clinical diagnostics. For each method, the following characteristics are specified: (a) principle, (b) major modifications, (c) maximum fragment size that can be analyzed, (d) ratio and type of mutations that can be detected (e) minimum ratio of mutant to wild-type alleles at which mutations can be detected, and (j) detection methods. Special attention is paid to the possibilities of quality assessment and the potential for standardization and automation.\",\"PeriodicalId\":80043,\"journal\":{\"name\":\"Journal of the International Federation of Clinical Chemistry\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1093/clinchem/43.7.1114\",\"citationCount\":\"111\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the International Federation of Clinical Chemistry\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/clinchem/43.7.1114\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the International Federation of Clinical Chemistry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/clinchem/43.7.1114","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 111

摘要

我们给出了一个概述当前的方法检测点突变以及小插入和缺失在临床诊断。对于每种方法,规定了以下特征:(a)原理,(b)主要修改,(c)可分析的最大片段大小,(d)可检测突变的比例和类型,(e)可检测突变的突变型与野生型等位基因的最小比例,以及(j)检测方法。特别注意质量评价的可能性以及标准化和自动化的潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Methods for detection of point mutations: performance and quality assessment. The IFCC Scientific Division, Committee on Molecular Biology Techniques.
We give an overview of current methods for the detection of point mutations as well as small insertions and deletions in clinical diagnostics. For each method, the following characteristics are specified: (a) principle, (b) major modifications, (c) maximum fragment size that can be analyzed, (d) ratio and type of mutations that can be detected (e) minimum ratio of mutant to wild-type alleles at which mutations can be detected, and (j) detection methods. Special attention is paid to the possibilities of quality assessment and the potential for standardization and automation.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信