Subtitle:

Application of molecular biology techniques in diagnosisof human genetic diseases

Publisher:

Committee on Biotechnology PAS ; Institute of Bioorganic Chemistry PAS

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:

23

Issue:

4

Start page:

125

End page:

131

Detailed Resource Type:

Article

Format:

application/pdf

Resource Identifier:

0860-7796 ; oai:rcin.org.pl:149097 ; IChB B-19

Source:

Library of Institute of Bioorganic Chemistry PAS

Language:

pol

Language of abstract:

eng

Temporal coverage:

1988-2010

Rights:

Creative Commons Attribution BY-SA 4.0 license

Terms of use:

Copyright-protected material. [CC BY-SA 4.0] May be used within the scope specified in Creative Commons Attribution BY-SA 4.0 license, full text available at:

Digitizing institution:

Institute of Bioorganic Chemistry of the Polish Academy of Science

Original in:

Institute of Bioorganic Chemistry of the Polish Academy of Science

Projects co-financed by:

Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.

Access:

Open