Fundamental importance of molecular genetic tests in solving clinical problems is outlined. Relations between genetic counseling and laboratory for molecular pathology in putting molecular genetic tests into practice are focused. Authors look at the possibilities for immediate application of DNA analysis according to the degree of exploration of different genes, determining monogenic diseases. Attention is paid to the methods for direct and indirect DNA analysis used postnatally and prenatally both for diagnosis and prevention. Definition of 'informative' risk family is given, being an object for indirect methods of DNA analysis. Molecular genetic tests are shown as basis for research, genetic investigations of the populations and the diseases spread in them and for creating and applying mass and selective diagnostic and preventing screening programs that aim at ameliorating the human genome and decreasing the number of patients with socially significant hereditary diseases.
Кременски, И. Генетика, лабораторна диагностика и профилактика на наследствените болести. София, Лаборатория по молекулна патология, 1998.
Първа работна среща по невро-мускулни заболявания - София"98. София, 1998.
Савов, А., И. Кременски. Наследствена двигателно-сетивна полиневропатия - Лом. HMSNL, Ломска болест.- В: Първа работна среща по невро-мускулни заболявания - София'98. София,' 1998, 51-60.
Auer-Gruinbach, М., P. De Joughe. К.Wagner, К.. Verhoeven, et al. Phenotype-genotype correlations in a CMT2B family with refined 3ql3-q22 locus.- Neurology, 55, 2000, No 10, 1552-1554.
Gelehrter, T. D., F. S. Collins, D. Ginsburg. Principles of Medical Genetics. 2. ed. Baltimore, Williams & Wilkins, 1998.
Hayden, M. R. DNA Diagnosis. - In: Genetics. 2. ed. E. A. Nieginski, ed. Baltimore, Williams &Wilkins, 1996,91-104.
Lyon, G.. R. D. Adams. Е. H. Kolodny. Neurology of Hereditary Metabolic Diseases of Children. 2. ed. New York, McGraw-Hill, 1996, 229-234.
Email this article (Login required) 
