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Accession Number PB2013-100477
Title High Throughput Mass Spectrometry to Exploit Genetic Differences in Same-Length STR Alleles.
Publication Date Dec 2011
Media Count 116p
Personal Author S. A. Hofstadler T. A. Hall
Abstract This project focused on design, validation and utilization of a next generation STR and Y-STR typing platform based on automated electrospray ionization mass spectrometry (ESI-MS). The approach is based on using ESI-MS to weigh DNA forensic markers with enough accuracy to yield an unambiguous base composition (i.e. the number of As, Gs, Cs and Ts in an amplicon) which in turn can be used to derive an allele profile for an individual. Profiles generated are fully backwards-compatible with existing STR typing technologies. A preliminary STR profiling assay developed during primary phase project No. 2006- DN-BX-K011 was refined, developmentally validated and carried into commercial manufacturing mode during the phase of this project. A 16-locus Y-STR assay was developed and brought to preliminary pilot manufacturing status. Basic developmental validation was performed and a preliminary survey of profiles from three major population groups was performed Because the mass spectrometer produces a measure allowing calculation of base composition rather than just length, mass spectrometric analysis shows that the standard STR markers often exhibit SNPs within the repeat region which can distinguish same length alleles. Sequence polymorphisms have been observed in 10 of 13 core CODIS STR loci, and a high percentage of polymorphic alleles have been observed in 7 of 13 core loci. An analysis of mother/father/offspring triplets demonstrated that these polymorphisms are faithfully transferred from parent to offspring and can potentially help in the resolution of certain ambiguities in relationship analysis, such as the parental source of an ambiguous parent-to-offspring germline mutation. Three of the core YSTR loci displayed a high proportion of polymorphisms with a potentially substantial frequency variation between populations.
Keywords DNA
Electrospray ionization mass spectrometry (ESI-MS)
Forensic markers
Genetic differences
Human forensic
Mass spectrometry
Short Tandem Repeat (STR)

Source Agency Office of Justice Programs.
NTIS Subject Category 99A - Analytical Chemistry
57F - Cytology, Genetics, & Molecular Biology
92D - Education, Law, & Humanities
Corporate Author National Inst. of Justice, Washington, DC. Office of Justice Programs.
Document Type Technical report
Title Note Final rept.
NTIS Issue Number 1304
Contract Number 2008-DN-BX-K304

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