IMR Press / FBE / Volume 4 / Issue 3 / DOI: 10.2741/E440

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Article

LOH of PTCH1 region in BCC and ovarian carcinoma: microsatellite vs. HRM analysis

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1 Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia
2 Department of Obstetrics and Gynecology, University of Zagreb School of Medicine, Zagreb, Croatia
3 Department of Maxillofacial Surgery, University Hospital Osijek, Osijek, Croatia

*Author to whom correspondence should be addressed.

 

Front. Biosci. (Elite Ed) 2012, 4(3), 1049–1057; https://doi.org/10.2741/E440
Published: 1 January 2012
Abstract

Loss of heterozygosity (LOH) of tumor suppressor genes is a frequent event in tumorigenesis. LOH is most often analyzed by microsatellite typing, but here we offer a fast and efficient method for simultaneous SNP genotyping and mutation scanning, which can also be used for LOH detection. High resolution melting (HRM) provides simple variant detection, and can be adopted for a wide range of applications. When a melting profile for a specific SNP is determined, the screening can be done without the need for sequencing, and only the melting profiles differing from the established melting profiles should be sequenced. LOH of PTCH1 gene is often found in a series of different tumors, for example basal cell carcinoma (BCC) and ovarian carcinoma (OC). In this study LOH was detected in 50% of BCC and 27.27% of OC, and the detection rates of microsatellite typing and HRM were comparable. Both methods depended only on the heterozygosity of the loci analyzed, but HRM offers an additional advantage of detection of all sequence variants in the gene of interest.

Keywords
loss of heterozygosity
high resolution melting
PTCH1
basal cell carcinoma
ovarian carcinoma
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