الفهرس 
Introduction and aim of the work
DNA Basic TechniquesOnly 14 pages are availabe for public view
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Abstract
Inborn error of metabolism comprises a large class of genetic diseases involved metabolism. The majority are due to defects of single gene that code for enzymes conversion of various substances (substrates) into other products. In most problems arise due to accumulation of substances which are toxic or interfere with function, or to the effects of reduced ability to synthesize essential compounds. Because of multiplicity of conditions, many different diagnostic, screening tests are used (eg. ferric chloride test, ninhydrine paper chromatography, quantities plasma amino acid assay, urine organic acids by spectrometry. Recombinant DNA technology for enzymes involved in inborn errors facilitates the diagnosis. Molecular genetic techniques are valuable, not only for confirmatory testing, but also for primary newborn screening. Initial applications involved genotyping conformation of positive screening test by DNA microextraction or direct amplification from dried blood spots. DNA basic technology used in diagnosis and screening of metabolic inborn errors offer the following advantages compared to conventional biochemical diagnostic methods (eg., enzymatic analysis, ect) 1) the result are clear-cut owing to the simplicity of the mode of mutations, 2) dignosis can be made from any tissue, even archival specimens, 3) diagnosis can be made during human development, even in pre-implantation embryo.