[Use of molecular biology approaches in studying hereditary diseases].
The application of some molecular biological methods for studying the causes of hereditary diseases induced by quantitative changes of the normal protein synthesis is discussed. The group of hereditary anemiae in humans (alpha- and beta-thalassaemia) taken as an example, possible defects at various stages of the protein synthesis control and modern methods of the analysis of these defects are considered and promises offered by such approaches are shown.
D004247:DNA; D005796:Genes; D030342:Genetic Diseases, Inborn / Q000209:etiology* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D008968:Molecular Conformation; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000096:biosynthesis; D012343:RNA, Transfer / Q000096:biosynthesis; D012712:Serum Globulins / Q000096:biosynthesis; D013789:Thalassemia / Q000145:classification / Q000235:genetics; D014158:Transcription, Genetic
D012333:RNA, Messenger; D012712:Serum Globulins; D004247:DNA; D012343:RNA, Transfer
Primenenie molekuliarno-biologicheskikh podkhodov pri izuchenii nekotorykh nasledstvennykh bolezneĭ.