Properties and units in the clinical laboratory sciences - Part XVIII. Properties and units in clinical molecular biology (IUPAC technical report)

摘要

This document describes the introduction of the concept of property in the field of molecular biology for the presentation of results of clinical laboratory investigations of genes and mutations. It follows the IUPAC-IFCC systematic rules and attempts to create a common base for communication between the clinical laboratory sciences, the medical practitioner, and the molecular biology areas of knowledge.Because of the plethora of possible structural variations in the outcome of analysis, the designation of components is restricted to the symbols of genes as identified by the Human Genome Nomenclature Database (HUGO). The listing of properties having DNA as system comprises all symbols in the HUGO database except for symbols related to mitochondrial genes, while properties having RNA as system are included only when known to be in actual use. The detailed and accurate presentation of results is made by the laboratory performing the study, and it is recommended that the explicit guidelines given by Antonarakis and den Dunnen be adhered to.For electronic communication, a code (NPU) is allocated to each property identified. The complete list of properties, which is an integral part of this report, can be accessed at .