突变表示方法.docVIP

? Nomenclature for the description of sequence variations J.T. den Dunnen, S.E. Antonarakis: Hum Genet 109(1): 121-124, 2001 Reproduced with kind permission from Prof. S. E. Antonarakis (last modified March 7, 2001) ? Questions and comments regarding nomenclature should be directed to Professor Stylianos Antonarakis (?stylianos.antonarakis@medecine.unige.ch?) or Dr. Johan T. den Dunnen (?ddunnen@lumc.nl?). This page can also be found at the?HGVS?site. Contents Introduction Recommendations General DNA-level RNA-level protein-level Codons and encoded amino acids genetic code amino acid descriptions??(one / three letter code) Introduction Recently, a nomenclature system has been suggested for the description of changes (mutations and polymorphisms) in DNA and protein sequences [Antonarakis, S.E. and the Nomenclature Working Group?(1998)?Recommendations for a nomenclature system for human gene mutations.?Hum.Mut. 11: 1-3]. These nomenclature recommendations 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 complex mutations. This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex 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 complex mutations: a discussion.?Hum.Mut. 15: 7-12] (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 communicate with us regarding these suggestions. Furthermore, we invite investigators to send us complicated cases not covered yet, with a suggestion of how to describe these (mail to?ddunn