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Strengths and weaknesses associated with Y-STR genotyping

Strengths and weaknesses associated with Y-STR genotyping. Dan E. Krane Biological Sciences, Wright State University, Dayton OH 45435. Forensic Bioinformatics (www.bioforensics.com) help@bioforensics.com. Y chromosome background.

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Strengths and weaknesses associated with Y-STR genotyping

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  1. Strengths and weaknesses associated with Y-STR genotyping Dan E. Krane Biological Sciences, Wright State University, Dayton OH 45435 Forensic Bioinformatics (www.bioforensics.com) help@bioforensics.com

  2. Y chromosome background • A scanning electron micrograph of the human Y and X chromosomes in metaphase.

  3. Y chromosome details • Hemizygosity first recognized in the 1920’s • 300 million years old • Pseudoautosomal region is 1 to 2% different than X • Intrachromosomal recombination • 30 of 60 million base pairs sequenced

  4. X and Y chromosome genes • Y contains at least 78 active genes (vs. 2,000 on X) • 300 million years ago sex was environmentally determined • Many male specific immigrants in the past 30 to 50 million years

  5. Exclusive paternal inheritance

  6. Haplotype phylogeography

  7. High profile studies • Thomas Jefferson and Sally Heming • November, 1998 paper in Nature, accepted by the Jefferson foundation in 2000 then deemed “not definitive” in 2003. • Europe’s ten men • 8 Ys from 40,000 years ago and 2 from 8,000 • Cohanim are descendants of Moses’ brother • 50% of Jewish priests (including the Lemba) have an unusual haplotype • Adam (and Eve) • Adam and Eve lived in Africa but probably never met (Nature Genetics, 2000)

  8. Commercialization genealogy

  9. Y-STR markers Y-STR markers

  10. Italian Population Haplotypes 216 Unrelated Males Y385 From Forensic Haemogenetic Laboratory Catholic University of the Sacred Heart UCSC - ROME http://www.mclink.it/personal/MD1696/data/ Y393 Y392 Y391 Y390 Y389II Y389I Y19

  11. Commercially available kits • ReliaGene Y-PLEX6 • Tests DYS19, DYS385a/b, DYS389II, DYS390, DYS391 and DYS393. • ReliaGene Y-PLEX5 • Tests DYS389I, DYS389II, DYS392, DYS438 and DYS439. • ReliaGene’s Y-PLEX12 • Tests a total of 11 different loci (recommended by SWGDAM) including the 9 endorsed by the International Y-STR User Group plus amelogenin.

  12. Utility and Limitations of Y Chromosome STRs • Utility for forensic applications • 98% of violent crime by men • Male component isolated without differential extraction • Mixture deconvolution is simplified • Limitations for forensic applications • Paternal inheritance • Limited resolving power • Independence with autosomal loci?

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