Multiplex STR and mitochondrial DNA testing for paraffin embedded specimen of healthy and malignant tissue: Interpretation issues

C. Lu; Z. Budimlija; D. Popiolek; P. Illei; B. West; F. Fogt; J. J. Wei; M. Prinz

doi:10.1016/j.ics.2005.10.010

Multiplex STR and mitochondrial DNA testing for paraffin embedded specimen of healthy and malignant tissue: Interpretation issues

C. Lu, Z. Budimlija^*, D. Popiolek, P. Illei, B. West, F. Fogt, J. J. Wei, M. Prinz

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples. In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles ≤ 350 bp with a peak intensity > 300 RFU. mtDNA data for the same samples did not reveal increased mutation rates but for many cases were affected by DNA contamination. The mtDNA assay can be valuable in confirming an inclusion. Overall these sample types can still be used for identification purposes since any observed discrepancies can be explained.

Original language	English (US)
Pages (from-to)	648-650
Number of pages	3
Journal	International Congress Series
Volume	1288
DOIs	https://doi.org/10.1016/j.ics.2005.10.010
State	Published - Apr 2006

Keywords

Allelic instability
Human identification
Loss of heterozygosity
Malignant tumors
STR
mtDNA

ASJC Scopus subject areas

Medicine(all)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ics.2005.10.010

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title = "Multiplex STR and mitochondrial DNA testing for paraffin embedded specimen of healthy and malignant tissue: Interpretation issues",

abstract = "STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples. In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles ≤ 350 bp with a peak intensity > 300 RFU. mtDNA data for the same samples did not reveal increased mutation rates but for many cases were affected by DNA contamination. The mtDNA assay can be valuable in confirming an inclusion. Overall these sample types can still be used for identification purposes since any observed discrepancies can be explained.",

keywords = "Allelic instability, Human identification, Loss of heterozygosity, Malignant tumors, STR, mtDNA",

author = "C. Lu and Z. Budimlija and D. Popiolek and P. Illei and B. West and F. Fogt and Wei, {J. J.} and M. Prinz",

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volume = "1288",

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T1 - Multiplex STR and mitochondrial DNA testing for paraffin embedded specimen of healthy and malignant tissue

T2 - Interpretation issues

AU - Lu, C.

AU - Budimlija, Z.

AU - Popiolek, D.

AU - Illei, P.

AU - West, B.

AU - Fogt, F.

AU - Wei, J. J.

AU - Prinz, M.

PY - 2006/4

Y1 - 2006/4

N2 - STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples. In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles ≤ 350 bp with a peak intensity > 300 RFU. mtDNA data for the same samples did not reveal increased mutation rates but for many cases were affected by DNA contamination. The mtDNA assay can be valuable in confirming an inclusion. Overall these sample types can still be used for identification purposes since any observed discrepancies can be explained.

AB - STR typing results for 70 pairs of healthy vs. malignant tissues demonstrate the occurrence of microsatellite instability (MSI) and loss of heterozygosity (LOH) in the tumor samples. In order to not misinterpret degradation effects as LOH, this study recommends to only interpret alleles ≤ 350 bp with a peak intensity > 300 RFU. mtDNA data for the same samples did not reveal increased mutation rates but for many cases were affected by DNA contamination. The mtDNA assay can be valuable in confirming an inclusion. Overall these sample types can still be used for identification purposes since any observed discrepancies can be explained.

KW - Allelic instability

KW - Human identification

KW - Loss of heterozygosity

KW - Malignant tumors

KW - STR

KW - mtDNA

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JO - International Congress Series

JF - International Congress Series

ER -

Multiplex STR and mitochondrial DNA testing for paraffin embedded specimen of healthy and malignant tissue: Interpretation issues

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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