Abstract

Knowledge of gene analysis methods and concepts will be important to the clinical chemist in the near future. Currently most gene analyses must be performed by indirect techniques, using polynucleotide probes hybridizing close to or on the disease gene but not on the position of the mostly unknown gene mutation (restriction fragment length polymorphism analysis). The sensitivity and specificity of such assays are affected by biological and methodologic factors, and are being continually improved. Preventive medicine is a promising area for gene analysis which will possibly fit well into the domain of clinical chemistry. The application of nucleotide hybridization analysis in tissue matching for organ transplantation, and in the detection and differential diagnosis of malignancies is in its early stages. A very promising, and rapidly emerging, technology is the direct detection and differentiation by gene probing of bacteria and viruses in medical microbiology. Guidelines for the ethical problems of gene analysis already exist within the field of medical ethics.

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