Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2009, vol. 18, nr 1, January-February, p. 85–92

Publication type: review article

Language: English

Application of Selected Methods Based on the Polymerase Chain Reaction in Medical Molecular Diagnostics

Wykorzystanie wybranych metod opartych na reakcji polimerazy do diagnostyki molekularnej chorób genetycznych

Izabela Łaczmańska1,, Karolina Pesz1,, Łukasz Łaczmański2,

1 Department of Genetics, Wroclaw Medical University, Poland

2 Department of Endocrinology and Diabetology, Wroclaw Medical University, Poland

Abstract

A breakthrough in molecular biology came with the discovery of the polymerase chain reaction. It allowed the amplification of DNA fragments in vitro in an efficient, rapid, and inexpensive way. Furthermore, it is so versatile that the polymerase chain reaction technique has been used for a multitude of purposes and been found to be applicable in a variety of different disciplines. The authors present the most frequently used laboratory methods based on the polymerase reaction and discuss their application in diagnosing genetic disorders.

Streszczenie

Rozwój diagnostyki genetycznej jest ściśle związany z odkryciem łańcuchowej reakcji polimerazy (PCR). Pozwala ona na szybką, wydajną i tanią amplifikację in vitro fragmentów DNA. Reakcja prowadzona przez polimerazę stała się ponadto podstawą do stworzenia i rozwoju wielu różnych metod powszechnie stosowanych w laboratoriach. Autorzy przedstawiają najczęściej wykorzystywane metody biologii molekularnej oparte na reakcji polimerazy oraz opisują ich zastosowanie w diagnostyce chorób uwarunkowanych genetycznie.

Key words

polymerase reaction, diagnostic methods

Słowa kluczowe

reakcja polimerazy, metody diagnostyczne

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