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International Journal of Legal Medicine

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14.03.2016 | Short Communication

Detection of a G>C single nucleotide polymorphism within a repetitive DNA sequence by high-resolution DNA melting

verfasst von: Ulrike Schmidt, Johannes Hulkkonen, Jana Naue

Erschienen in: International Journal of Legal Medicine | Ausgabe 5/2016

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Abstract

In standard forensic DNA analysis, single base mutations within short tandem repeats (STR) mostly escape detection. In this study, high-resolution DNA melting (HRM) is compared to minisequencing and Sanger sequencing as to determine the most suitable method for detection of a G to C mutation within a repetitive DNA sequence, the STR system DXS10161. It shows an ATG/ATC polymorphism surrounded by a variable number of (TATC) and (ATCT) motifs. Neutral base changes like G:C to C:G result in very low differences in the melting temperature (T _m) of the PCR amplicons. By enhanced resolution of fluorescence vs. temperature in HRM, the technique showed to be suitable for detecting a G to C transversion in this repetitive DNA sequence context. Compared to minisequencing, HRM is more time- and cost-effective. Results were confirmed by Sanger sequencing.

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Titel: Detection of a G>C single nucleotide polymorphism within a repetitive DNA sequence by high-resolution DNA melting
verfasst von: Ulrike Schmidt
Johannes Hulkkonen
Jana Naue
Publikationsdatum: 14.03.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: International Journal of Legal Medicine / Ausgabe 5/2016
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-016-1350-3

Springer Medizin

Detection of a G>C single nucleotide polymorphism within a repetitive DNA sequence by high-resolution DNA melting

Abstract

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

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