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【正文】 Nomenclature for the description of sequence variations. den Dunnen, . Antonarakis: Hum Genet 109(1): 121124, 2001Reproduced with kind permission from Prof. S. E. Antonarakis(last modified March 7, 2001)Questions and ments regarding nomenclature should be directed to Professor Stylianos Antonarakis (@) or Dr. Johan T. den Dunnen (ddunnen@). This page can also be found at theHGVSsite.Contents Introduction Remendationso Generalo DNAlevelo RNAlevelo proteinlevel Codons and encoded amino acidso genetic codeo amino acid descriptions(one / three letter code)IntroductionRecently, a nomenclature system has been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences [Antonarakis, . and the Nomenclature Working Group(1998)Remendations for a nomenclature system for human gene mutations.. 11: 13]. These nomenclature remendations have now been largely accepted and stimulated the uniform and unequivocal description of sequence changes. However, current rules do not yet cover all types of mutations, nor do they cover more plex mutations. This document lists the existing remendations and summarizes suggestions for the description of additional, more plex changes, (shown in italics) based on a manuscript published in Human Mutation [den Dunnen, JT and Antonarakis, SE(2000).Mutation nomenclature extensions and suggestions to describe plex mutations: a discussion.. 15: 712] (copy in PDF format).Discussions regarding the advantages and disadvantages of the suggestions are necessary in order to continuously improve the designation of sequence changes. The consensus of the discussions will be posted here and we invite investigators to municate with us regarding these suggestions. Furthermore, we invite investigators to send us plicated cases not covered yet, with a suggestion of how to describe these (mail toddunnen@ and @). We hope these pages will be used as a guide to describe any sequence change, ultimately evolving into a uniformly accepted reference for mutation nomenclature description.General remendations(suggestions extending the current remendations are in italtics)The termsequence variationis used to prevent confusion with the termsmutationandpolymorphism, mutation meaning change in some disciplines and diseasecausing change in others and polymorphism meaning non diseasecausing change or change found at a frequency of 1% or higher in the population.The basic remendation is to usesystematic namesto describe each sequence variation. For this, variations are described at the most basic level, . the DNA level, using either a genomic or a cDNA reference sequence. A genomic reference sequence is preferred because it overes difficult cases, including multiple transcription initiation sites (promoters), alternative splicing, the use of different polyA addition signals, multiple translation initiation sites (ATGcodons) an
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