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URN etd-0212115-103737 Statistics This thesis had been viewed 1233 times. Download 2 times. Author Meng-Yi Chen Author's Email Address No Public. Department Bioengineering Year 2014 Semester 1 Degree Ph.D. Type of Document Doctoral Dissertation Language Chinese&English Page Count 126 Title Study and Application on Genetic Polymorphisms and Forensic Statistics of Sex Chromosomal Short Tandem Repeat Loci in Taiwanese Keyword Forensic science Likelihood ratio Sex chromosome X STR Y STR Allele frequency Population data Haplotype Rapidly mutating Rapidly mutating Haplotype Population data Allele frequency Y STR X STR Sex chromosome Likelihood ratio Forensic science Abstract Allele frequencies for the 12 STRs loci of the Investigator Argus X-12 kit were obtained from 514 unrelated Taiwanese individuals (327 males and 187 females). Hardy-Weinberg equilibrium tests on samples demonstrated no significant deviation from expected values for all 12 loci (p > 0.05). The linkage disequilibrium for the 12 loci in the female samples was observed only on DXS10103 and DXS10101 loci showing significant linkage disequilibrium. The combined mean exclusion chance was 0.99999 in duo cases and 0.99999999 in trio cases. This study used mathematical logic inferred likelihood ratio calculation formulas for full-sister, half-sister from the same father, and paternal grandmother–granddaughter relationships. The results for these three real familial cases suggest that these 12 STRs loci may appropriate for forensic relationship testing.
A new panel of RM Y-STRs composed of 13 markers with mutation rates above 1 x 10-2 was studied. A total of 656 unrelated males from Taiwan population were typed with 13 rapidly mutating Y-chromosome short tandem repeat (Y-STR) markers: DYF399S1, DYF387S1, DYS570, DYS576, DYS518, DYS526a+b, DYS626, DYS627, DYF403S1a+b, DYF404S1, DYS449, DYS547 and DYS612. 655 haplotypes of the RM 13 Y-STRs were obtained which only one haplotype was shared by two individuals. The combined haplotype diversity of the RM 13 Y-STRs was 0.9985. Allele frequencies for each locus are reported with nomenclature based on sequence analysis identical with published paper and recommendation from ISFG. 236 pairs of male relatives (such as father-son, siblings, grandfather-grandson, uncle-nephew, cousin) as paternally connected by 1–4 meiotic transfers, on an average 28.81% of the pairs were differentiated by mutation events within the RM Y-STRs panel. In detail 23.23% of the father and sons, and 53.13% of brothers or grandson with grandfather could be distinguished. Based on the data that the RM Y-STRs panel is effective in differentiating between closely or distantly related males could be confirmed. According to SWGDAM guidelines for Y-STR typing by forensic DNA laboratories the RM Y-STRs profile probability estimation was suggested.
Advisor Committee Chin-Wen Ho - advisor
Chang-En Pu - co-chair
chien-hsien Chen - co-chair
Kow-Jen Duan - co-chair
Kuang-Yu Hu - co-chair
Files Date of Defense 2015-01-26 Date of Submission 2015-02-12