Drop-out probabilities of IrisPlex SNP alleles

Jeppe Dyrberg Andersen; Torben Tvedebrink; Helle Smidt Mogensen; Claus Børsting; Niels Morling

Drop-out probabilities of IrisPlex SNP alleles

Jeppe Dyrberg Andersen, Torben Tvedebrink, Helle Smidt Mogensen, Claus Børsting, Niels Morling

Abstract

In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out when the amount of DNA was greater than 125. pg for 29 cycles of PCR and greater than 62. pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele. The probability of drop-out in heterozygote systems depended on the signal strength of the observed allele as well as the number of PCR and SBE cycles.

Original language	English
Article number	1
Journal	Forensic Society International: Genetics Supplement Series
Volume	4
Issue number	1
Pages (from-to)	e238-e239
Number of pages	2
ISSN	1875-1768
Publication status	Published - 2013
Event	25th: World Congress of the International Society for Forensic Genetics (ISFG) - Melbourne, Australia Duration: 2 Sept 2013 → 7 Sept 2013

Conference

Conference	25th
Country/Territory	Australia
City	Melbourne
Period	02/09/2013 → 07/09/2013

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Cite this

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title = "Drop-out probabilities of IrisPlex SNP alleles",

abstract = "In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out when the amount of DNA was greater than 125. pg for 29 cycles of PCR and greater than 62. pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele. The probability of drop-out in heterozygote systems depended on the signal strength of the observed allele as well as the number of PCR and SBE cycles.",

author = "Andersen, {Jeppe Dyrberg} and Torben Tvedebrink and Mogensen, {Helle Smidt} and Claus B{\o}rsting and Niels Morling",

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journal = "Forensic Science International: Genetics. Supplement Series",

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TY - GEN

T1 - Drop-out probabilities of IrisPlex SNP alleles

AU - Andersen, Jeppe Dyrberg

AU - Tvedebrink, Torben

AU - Mogensen, Helle Smidt

AU - Børsting, Claus

AU - Morling, Niels

PY - 2013

Y1 - 2013

N2 - In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out when the amount of DNA was greater than 125. pg for 29 cycles of PCR and greater than 62. pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele. The probability of drop-out in heterozygote systems depended on the signal strength of the observed allele as well as the number of PCR and SBE cycles.

AB - In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out when the amount of DNA was greater than 125. pg for 29 cycles of PCR and greater than 62. pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele. The probability of drop-out in heterozygote systems depended on the signal strength of the observed allele as well as the number of PCR and SBE cycles.

M3 - Conference article

SN - 1875-1768

VL - 4

SP - e238-e239

JO - Forensic Science International: Genetics. Supplement Series

JF - Forensic Science International: Genetics. Supplement Series

IS - 1

M1 - 1

T2 - 25th

Y2 - 2 September 2013 through 7 September 2013

ER -

Drop-out probabilities of IrisPlex SNP alleles

Abstract

Conference

UN SDGs

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