DIP-STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures.

Details

Ressource 1Download: BIB_2E06998C6441.P001.pdf (417.87 [Ko])
State: Public
Version: Final published version
Serval ID
serval:BIB_2E06998C6441
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
DIP-STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures.
Journal
Human Mutation
Author(s)
Castella V., Gervaix J., Hall D.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Publication state
Published
Issued date
2013
Volume
34
Number
4
Pages
644-654
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublish
Abstract
Samples containing highly unbalanced DNA mixtures from two individuals commonly occur both in forensic mixed stains and in peripheral blood DNA microchimerism induced by pregnancy or following organ transplant. Because of PCR amplification bias, the genetic identification of a DNA that contributes trace amounts to a mixed sample represents a tremendous challenge. This means that standard genetic markers, namely microsatellites, also referred as short tandem repeats (STR), and single-nucleotide polymorphism (SNP) have limited power in addressing common questions of forensic and medical genetics. To address this issue, we developed a molecular marker, named DIP-STR that relies on pairing deletion-insertion polymorphisms (DIP) with STR. This novel analytical approach allows for the unambiguous genotyping of a minor component in the presence of a major component, where DIP-STR genotypes of the minor were successfully procured at ratios up to 1:1,000. The compound nature of this marker generates a high level of polymorphism that is suitable for identity testing. Here, we demonstrate the power of the DIP-STR approach on an initial set of nine markers surveyed in a Swiss population. Finally, we discuss the limitations and potential applications of our new system including preliminary tests on clinical samples and estimates of their performance on simulated DNA mixtures.
Keywords
Compound genetic marker, Forensic, DNA microchimerism, Diagnostics
Pubmed
Web of science
Open Access
Yes
Create date
25/04/2013 16:53
Last modification date
20/08/2019 13:12
Usage data