[The polymerase chain reaction PCR and its use in genetic diagnosis].
In genomic diagnosis the ensemble of techniques has been recently expanded by the powerful method of the polymerase chain reaction (PCR). Using pairs of synthetic oligonucleotides for priming of synthesis and a thermoresistant DNA polymerase a millionfold amplification of target DNA sequences from patients provides DNA fragments for following investigations such as electrophoresis. The paper presents some examples of PCR application for diagnosis in cystic fibrosis and Duchenne muscular dystrophy.
Abteilung Humangenetik, Medizinischen Akademie Magdeburg.
R
R
Szibor
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R
Brückner
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
Die molekulare Kettenreaktion PCR und ihre Anwendung in der genomischen Diagnostik.