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High Throughput Mass Spectrometry to Exploit Genetic Differences in Same-Length STR Alleles

NCJ Number
Date Published
116 pages

This final report presents the results of research on the design, validation, and utilization of a next generation STR(short tandem repeat) and Y chromosome-STR typing platform using high throughput mass spectrometry.


This report presents the results of research that designed, validated, and implemented a new STR and Y-STR typing platform using high throughput mass spectrometry. The research was undertaken because it has been shown that a need exists within the forensics community to derive maximum information from degraded DNA samples which can yield an incomplete set of STR markers. This research had three specific aims: 1) complete the implementation of a new robust STR (short tandem repeat) panel on the Ibis T5000 platform; 2) develop an ESI-MS (electrospray-ionization mass spectrometry) assay for the SWGDAM (Scientific Working Group on DNA Analysis Methods)-recommended Y-STR markers; and 3) characterize polymorphisms in core autosomal STR and Y-STR markers. These goals were accomplished through the analysis of sets of samples to compile nucleotide-polymorphic allele frequencies in the core CODIS STR loci and the standard forensic Y-STR loci, and through the analysis of samples linked by extended family relationships to verify the faithful transmission of polymorphic alleles. This final result of this research was the development of a new technology for analysis of forensic markers that has culminated in an STR assay and associated software prepared for commercialization. Tables, figures, and references

Date Published: January 1, 2011