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Application of molecular biology techniques in diagnosisof human genetic diseases
Subtitle:Application of molecular biology techniques in diagnosisof human genetic diseases
Creator:Słomski, Ryszard ; Kwiatkowska, Jolanta ; Chlebowska, Hanna
Publisher:Committee on Biotechnology PAS ; Institute of Bioorganic Chemistry PAS
Date issued/created: Subject and Keywords: Abstract:Following the initial reports of the cloning of a DNA fragment, modem molecular geneticsfound immediate practical application in molecular analysis and diagnosis of human diseases.Genomic DNA, RNA, nucleic acids from archival specimens or cloned DNA may be startingmaterials for gene analysis. In extreme cases complete analysis can be performed on the DNAfrom a single cell or a few microdissected chromosome fragments, or on RNA from only fewcells. Many variations of the basic analytical procedures have now been described and appliedto a range of medical disciplines. These include, the polymerase chain reaction (PCR), whichhas had a major impact on the diagnosis and screening of genetic diseases and cancer, therapid detection of fast or slow growing microorganisms and vimses, such as mycobacteria andHfV, the detection of minimal residual diseases in leukaemia and in HLA typing. The analysisof archival and forensic material has applications in forensic pathology and evolutionary biology.PCR technique has also established a central role in the human genome project.
Relation:Biotechnologia, vol.23, 4 (1993)-.
Volume: Issue: Start page: End page: Resource type: Detailed Resource Type: Format: Resource Identifier: Source:Library of Institute of Bioorganic Chemistry PAS
Language: Language of abstract: Temporal coverage: Rights:Creative Commons Attribution BY-SA 4.0 license
Terms of use: Digitizing institution:Institute of Bioorganic Chemistry of the Polish Academy of Science
Original in:Institute of Bioorganic Chemistry of the Polish Academy of Science
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