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The identification and characterization of new y-chromosome short tandem repeat LOCI and a closer look at the YpXq 3-4mb homology block

Maybruck, Julie Lauren
http://rave.ohiolink.edu/etdc/view?acc_num=osu1085600591

Abstract Details

2004, Doctor of Philosophy, Ohio State University, Molecular Genetics.
The ability to discriminate between individuals is the basis of DNA forensics. Variable autosomal short tandem repeat (STR) loci are currently the markers used in forensics. Men commit the majority of violent crimes. Therefore, the use of Y-chromosome STRs are ideal to obtain male DNA information from female/male body fluid mixtures. Several loci have been identified; however, there are drawbacks associated with these loci. They are highly concentrated in two small regions of the Y-chromosome, and several are duplicated on the sex chromosomes. We used the Human Genome Project Sequence to identify new Y-STRs outside of the concentrated regions of loci. BLAST searches were conducted against the human genome to identify single copy loci. Nearly 75% of the loci examined are duplicated elsewhere in the human genome. The remaining 62 loci were narrowed to a set of 10 (OSU 10-locus set) after examination in a racially diverse test population of 30 individuals. The OSU 10-locus set revealed 30 unique haplotypes. The OSU 10-locus set was compared with two other sets of loci, Redd and Y-Plex (most widely used), in the same 30 individuals. A higher number of average alleles was seen using the OSU 10-locus set than seen in the other sets. Pairwise comparisons, using the Y-Plex and OSU sets, were conducted; the OSU 10-locus set had a larger number of differences between individuals 60% of the time. The OSU loci also have an average gene diversity that is 10% greater than the Y-Plex loci. Our preliminary screen indicates that the OSU 10-locus set is more variable than previously available loci and is thus better able to discriminate individuals. In our quest for new loci, we identified several blocks of homology between the X- and Y-chromosomes. A 3-4Mb block of homology between Yp and Xq in the Y-and X-chromosomes is of particular interest. This region of homology contains numerous STRs, two active genes, and several processed pseudogenes. The conservation of these regions and the fact that they are more similar to each other than other sequences in the human genome suggests that these regions may be undergoing gene conversion.
Paul Fuerst (Advisor)
133 p.
Biology, Genetics
Y-chromosome; Y-chromosome short tandem repeats; Y-STRs; Y-chromosome microsatellites

Recommended Citations

Citations

  • Maybruck, J. L. (2004). The identification and characterization of new y-chromosome short tandem repeat LOCI and a closer look at the YpXq 3-4mb homology block [Doctoral dissertation, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1085600591

    APA Style (7th edition)

  • Maybruck, Julie. The identification and characterization of new y-chromosome short tandem repeat LOCI and a closer look at the YpXq 3-4mb homology block. 2004. Ohio State University, Doctoral dissertation. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1085600591.

    MLA Style (8th edition)

  • Maybruck, Julie. "The identification and characterization of new y-chromosome short tandem repeat LOCI and a closer look at the YpXq 3-4mb homology block." Doctoral dissertation, Ohio State University, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=osu1085600591

    Chicago Manual of Style (17th edition)

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This open access ETD is published by The Ohio State University and OhioLINK.