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  Anglicky / English version Klin. Biochem. Metab., 12 (33), 2004, No. 3, p. 145–156.
 
Rapid Genotyping of Catechol-O-Methyltransferase Polymorphism Using Real-Time PCR with Fluorescent Hybridization Probes 
Beránek M.1, Horáček J.2, Palička V.1 

1Institute of Clinical Biochemistry and Diagnostics, Charles University Hospital, Hradec Králové, Czech Republic2Prague Psychiatric Center, 3rd Faculty of Medicine of Charles University, Center of Neuropsychiatric Studies,Prague, Czech Republic
 


Souhrn:

       A single-nucleotide polymorphism at codon 108/158 of the catechol-O-methyltransferase (COMT) gene alters the metabolism of catecholamine neurotransmitters and contributes to the etiology of several mental disorders. We present a rapid real-time PCR method for COMT genotyping via melting point analysis with fluorescent hybridization probes. 58 of 118 investigated healthy volunteers (49%) were heterozygous Met/Val, 25 subjects (21%) were homozygous Met/Met, and 35 subjects (30%) were homozygous Val/Val. The estimation of Val-108/158 allele frequency was about 54%. Detection of the genetic polymorphism at COMT codon 108/158 by real-time PCR could be an attractive approach providing rapid and accurate results of DNA analysis.

        Klíčová slova: COMT, polymorphism, real-time PCR, DNA.
       

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