27 No. 1
Properties and Units in the Clinical Laboratory Sciences. Part XVIII. Properties and Units in Clinical Molecular Biology
(IUPAC Technical Report)
P. Soares de Araujo et al.
Pure and Applied Chemistry
Vol. 76, No. 9, pp. 1799–1807 (2004)
Basic research in biology and medicine and innovations in laboratory methodology have greatly increased the range of properties available to medical practitioners to help them in diagnosis, treatment, and prevention of disease. The increase in variety of properties examined is now such that the individual physician has insight into or understanding of only a limited number of properties offered to him from the various clinical laboratory specialties.
In the laboratory, local terms (jargon) may be well understood among colleagues, but they are not appropriate for communication with the outside world. Likewise, a laboratory and its local community of users, such as hospital or community physicians, may use a “local dialect” of the language of clinical laboratory sciences that is well understood by all concerned, but when the communication possibilities are wider, even transnational, risks of serious misunderstanding arise. It is, therefore, essential to promote clear, unambiguous, meaningful, and fully informative communication.
Coherence of statements made within and between medical specialties and uniformity in structure of presentation is an objective to be actively pursued. This will facilitate the transfer of information across socio-linguistic barriers. The purpose of this document is to apply the IUPAC–IFCC (International Federation of Clinical Chemistry and Laboratory Medicine) recommended syntax structures for request and report, providing formats and names of properties observed in the domain of medical molecular biology, and to facilitate unequivocal written or electronic communication between health care professionals.
For identification of genes, the “approved names” given in the HUGO [Human Genome Nomenclature Database <www.gene.ucl.ac.uk/nomenclature>], in the form of symbols, have been used except for symbols of mitochondrial genes. (Variations in mitochondrial genes and chromosomes are not dealt with in this technical report.) The use of symbols rather than names is in contrast to previous reports for other medical domains where names have been applied systematically. This is because the names of genes are often very extensive and of limited value to the nonspecialist. Admittedly, the symbols also are of limited direct informative value, but they are gaining increasing general application and hence meaningful connotation.
of the main points of this paper is the recognition that any
report of a variation of a nucleic acid sequence should include
the identity of the sequence referred to. For this purpose,
reference is given to “Nomenclature for the description
of sequence variation” elaborated by Prof. Stylianos
Antonarakis and Dr. Johan T. den Dunnen [7 March 2001; http://archive.uwcm.ac.uk/uwcm/mg/docs//mut_nom.html>].
list of properties shown in this document comprises the list
of symbols for components as given in the HUGO as of 24 September
2003. This list, which is an integral part of this technical
report, can be accessed at <www.iupac.org/publications/pac/2004/7609/7609x1799.html>.
the list of properties contains more than 16 000 entries,
it is not suitable for printing on paper. The online version
contains links to databases that allow the reader to obtain
information about the selected genes. Frequently updated versions
of the listing can be obtained at <http://dior.imt.liu.se/cnpu>,
the official C-NPU site, also from <www.labinfo.dk/English/download_uk.asp>
the listing can be downloaded both as an Excel file or as
last modified 28 December 2004.
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