open access

Vol 47, No 1 (2009)
Original paper
Submitted: 2011-12-19
Published online: 2009-05-08
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Loss of heterozygosity (LOH)--implications for human genetic identification.

Witold Pepiński, Ireneusz Sołtyszewski, Małgorzata Skawrońska, Marek Rogowski, Renata Zalewska, Leszek Kozłowski, Tomasz Filipowski, Jerzy Janica
DOI: 10.2478/v10042-009-0019-x
·
Folia Histochem Cytobiol 2009;47(1):105-110.

open access

Vol 47, No 1 (2009)
ORIGINAL PAPERS
Submitted: 2011-12-19
Published online: 2009-05-08

Abstract

The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from reference blood samples. AmpFlSTR Identifiler PCR Amplification Kit and ABI 310 Genetic Analyzer (Applera) were used to obtain genetic profiles. Frequency of LOH was calculated for respective samples. Fisher's exact test was performed for statistical analysis. Forty-two percent of the 101 cancer cases analysed were found to possess alterations of the microsatellites manifesting with allelic loss. The most frequently altered loci were D3S1358 and D18S51. The alteration was detected in 47% of cases with larynx carcinoma, 44% of cases with uveal melanoma, 60% of cases with cervical cancers, one case of liposarcoma G3 and one case od neurofibrosarcoma. No LOH was found in liposarcoma G1, dermatofibrosarcoma and cystosarcoma protuberans in either primary or recurrent tumours. In benign tumours (lipoma and fibroma) LOH was also absent. During genotyping of DNA extracted from histopathological tissue sections caution should be taken when non-match or exclusion based on few discrepancies is concluded.

Abstract

The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from reference blood samples. AmpFlSTR Identifiler PCR Amplification Kit and ABI 310 Genetic Analyzer (Applera) were used to obtain genetic profiles. Frequency of LOH was calculated for respective samples. Fisher's exact test was performed for statistical analysis. Forty-two percent of the 101 cancer cases analysed were found to possess alterations of the microsatellites manifesting with allelic loss. The most frequently altered loci were D3S1358 and D18S51. The alteration was detected in 47% of cases with larynx carcinoma, 44% of cases with uveal melanoma, 60% of cases with cervical cancers, one case of liposarcoma G3 and one case od neurofibrosarcoma. No LOH was found in liposarcoma G1, dermatofibrosarcoma and cystosarcoma protuberans in either primary or recurrent tumours. In benign tumours (lipoma and fibroma) LOH was also absent. During genotyping of DNA extracted from histopathological tissue sections caution should be taken when non-match or exclusion based on few discrepancies is concluded.
Get Citation
About this article
Title

Loss of heterozygosity (LOH)--implications for human genetic identification.

Journal

Folia Histochemica et Cytobiologica

Issue

Vol 47, No 1 (2009)

Article type

Original paper

Pages

105-110

Published online

2009-05-08

DOI

10.2478/v10042-009-0019-x

Bibliographic record

Folia Histochem Cytobiol 2009;47(1):105-110.

Authors

Witold Pepiński
Ireneusz Sołtyszewski
Małgorzata Skawrońska
Marek Rogowski
Renata Zalewska
Leszek Kozłowski
Tomasz Filipowski
Jerzy Janica

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