[Show abstract][Hide abstract] ABSTRACT: Three sampled populations of unrelated males--African American, Caucasian, and Hispanic, all from Texas-were typed for 16 Y short tandem repeat (STR) markers using the AmpFlSTR Yfiler kit. These samples also were typed previously for the 13 core CODIS autosomal STR loci. Most of the 16 marker haplotypes (2478 out of 2551 distinct haplotypes) were observed only once in the data sets. Haplotype diversities were 99.88%, 99.89%, and 99.87% for the African American, Caucasian, and Hispanic sample populations, respectively. F(ST) values were very small when a haplotype comprised 10-16 markers. This suggests that inclusion of substructure correction is not required. However, haplotypes consisting of fewer loci may require the inclusion of F(ST) corrections. The testing of independence of autosomal and Y STRs supports the proposition that the frequencies of autosomal and Y STR profiles can be combined using the product rule.
[Show abstract][Hide abstract] ABSTRACT: Eight DYS385 allele size discrepancies and six DYS448 null types were detected among 708 Korean men when results of three in-house multiplex short tandem repeat (STR) systems were compared. The systems included both ordinary and reduced size amplicons. Sequence analysis revealed deletion mutations at two sites upstream of the DYS385 core repeats and deletion of the entire DYS448 locus. At DYS385, allele size differences were one or two repeats and were dependent on the primer set used for polymerase chain reaction (PCR) amplification. Location of the primer target sequence in a flanking region of the STR, distal or proximal to the deletion, determined allele size. Two widely used commercial kits amplify DYS385 so as to include the mutable sites. Arrangement analysis of sequence tagged sites demonstrated that the deletion patterns at DYS448 (and DYS464) were associated with arrangements of the azoospermia factor c gene (AZFc). The DYS448 deletion appears relatively frequent in Asians.
[Show abstract][Hide abstract] ABSTRACT: The Y-chromosomal diversity among Finnish males is characterized by low diversity and substantial geographical substructuring. In a 12-locus data set (PowerPlexY), especially the eastern parts of the country showed low levels of variation, and the western, middle, and eastern parts of Finland differed from each other by their Y-short tandem repeat (STR) haplotype frequencies (Palo et al., Forensic Sci Int Genet 1:120-124, 2007). In this paper, we have analyzed geographical patterns of Y-STR diversity using both 12-locus (PowerPlexY) and 17-locus (Yfiler) data sets from the same set of geographically structured samples. In the larger data set, the haplotype diversity is significantly higher, as expected. The geographical distribution of haplotypes is similar in both data sets, but the level of interregional differences is significantly lower in the Yfiler data. The implications of these observations on the forensic casework are discussed.
Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 07/2008; 122(6):449-56. DOI:10.1007/s00414-008-0250-6 · 2.60 Impact Factor
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