Notes: The authors determined the degree of polymorphism and population diversity of STR loci in 1,156 Russian individuals using the PowerPlex^® 16 System. They examined populations of six cities and 11 ethnic groups in the Russian Federation and reported the levels of intra- and interpopulation genetic differentiation and genetic relations between populations. There were significant differences between Russian populations and the U.S. reference database that was used in forensic medical examinations in Russia. The authors created a database of allele frequencies for 15 STR loci in Russian populations for DNA identification and forensic medical examination. (4150)

Notes: The authors examined the heritability of certain eye characteristics that may be associated with glaucoma using a classic twin study with both monozygotic and dizygotic twins. Zygosity of same-sex twins was determined by typing 15 STR loci using the PowerPlex^® 16 System. (4044)

Notes: The authors used the PowerPlex® Y System to amplify Y-STRs from 154 sexual assault cases in the Philippines. Duplicate amplifications were assembled as recommended by the manufacturer, and amplified products were detected using an ABI PRISM® 310 Genetic Analyzer. Microscopic analysis revealed sperm in 15% of the cases, and Y-STR analysis revealed male DNA in 41% of the cases. (4088)

Notes: In 1991, the remains of murdered Emperor Nicholas II, Empress Alexandra and three of their five children were discovered. Until recently, the remains of the two other children were never found. In July of 2007 human bone fragments were discovered at a second grave site in the Ural region of Russia. The authors performed DNA typing to determine if these remains were those of the two missing children. Bone fragments and teeth were subjected to mitochondrial and nuclear DNA typing. DNA was quantitated using the Plexor® HY System. Nuclear DNA analysis was performed, in part, using the PowerPlex® S5 System. A comparison of mitochondrial DNA sequences from remains in the first and second graves and from maternal reference samples confirmed that the remains constituted a family with a "Queen Victoria" mitotype (Empress Alexandra was the granddaughter of Queen Victoria). Y-STR analysis of both sets of remains was performed, and the results confirmed that the Y-STR haplotypes of the two sets of male remains matched, and this haplotype matched that of several descendants from an unbroken paternal lineage of Nicholas I, father of Nicholas II. The mitochondrial and Y-STR haplotypes and autosomal STR profile also matched those obtained from a bloodstained shirt that Nicholas II was wearing during an assassination attempt. (3967)

Notes: The authors attempted to isolate DNA from samples tested with Hemastix® reagent strips, which are commonly used to test for the presence of blood, using the DNA IQ™ System. Yields from samples that had been tested with Hemastix® strips were dramatically lower than those from untested samples. The experiments suggested that 3,3´,5,5´tetramethylbenzidine (TMB) irreversibly binds to the magnetic DNA IQ™ Resin to prevent DNA recovery. To circumvent this, the authors implemented an effective indirect screening method, where the unknown sample was rubbed with dry filter paper, which was then tested with a prewetted Hemastix® strip. (4035)

Notes: The authors developed a new human prostate cancer cell line, CWR22Pc, that is both androgen-dependent and able to produce tumors in dihydrotestosterone-supplemented nude mice. To confirm that CWR22Pc cells are derived from primary CWR22 human prostate xenograft tumors, the authors performed genotyping at 8 STR loci and amelogenin using the PowerPlex^® 1.2 System. DNA purification from the cell line and original tumor samples was performed using the Wizard^® Genomic DNA Purification Kit. (4041)

Notes: Somatic cell nuclear transfer technique was used to generate human blastocyst-stage embryos using nuclei from adult male fibroblasts cell lines and enucleated oocytes. Genomic DNA was analyzed using the PowerPlex® 16 system to confirm the genetic identity of the blastocyst cells. (3952)

Notes: The authors describe the developmental validation of the Plexor^® HY System, a quantitative PCR assay that simultaneously quantifies total human and male DNA. Validation studies examined: (1) human specificity, (2) sensitivity, (3) quantitation of degraded DNA, (4) impact of inhibitors, (5) male/female mixture and Y-assay male specificity, (6) reproducibility and concordance and (7) population studies. (3969)

Notes: The authors examined the heritability of primary angle closure using a classic twin study with both monozygotic and dizygotic twins. Zygosity of same-sex twins was determined by typing 15 STR loci using the PowerPlex^® 16 System. (4042)

Notes: The authors examined the heritability of certain eye characteristics that may be associated with glaucoma using a classic twin study with both monozygotic and dizygotic twins. Zygosity of same-sex twins was determined by typing 15 STR loci using the PowerPlex^® 16 System. (4043)

Notes: The authors generated population data for unrelated Caucasian-Mestizos from Columbia using the PowerPlex^® 2.1 System and the GammaSTR^® Multiplex. DNA was isolated from whole blood using the Wizard^® Genomic DNA Purification Kit or ReadyAmp™ Genomic DNA Purification System, then amplified per the manufacturer's recommendations. Amplified fragments were detected using a Hitachi FMBIO^® II fluorescence imaging system. (3856)

Notes: The authors generated population data for 100 unrelated individuals from three main ethnic groups in Bosnia and Herzegovina. Autosomal STR analysis was performed for 100 male and female individuals, and Y-STR analysis was performed with 100 male individuals. DNA was collected as buccal swabs or blood samples, isolated and amplified, and amplification products were detected using an ABI PRISM^® 377 DNA Sequencer. (3877)

Notes: The authors used a microfabricated capillary electrophoresis instrument to rapidly assess the genetic relationship between same-sex twins and their parents and siblings. STR typing was performed to determine if the twins were monozyotic or dizygotic and to confirm familial relationships. The authors used the PowerPlex^® 16 System to examine 15 STR loci in this study. (4045)

Notes: This paper describes analysis of DNA samples at a mock crime scene using automated DNA purification followed by STR analysis on a portable microchip system. The mock crime scene was created using "victim" and "suspect" blood stains prepared by spotting 3µl of liquid blood onto paper towels and a cloth shirt. The samples were allowed to dry overnight before placement at the crime scene. Samples were processed at the scene using the Maxwell^® 16 Instrument and DNA IQ™ Casework Sample Kit for DNA extraction, and a microchip analyzer to perform amplification and STR analysis. The 9-plex autosomal STR typing system used in the microchip system included primer sequences from the PowerPlex^® 16 System (D3S1358, THO1, D21S11, D5S818, D13S317, D7S820, vWA and D8S1179) and amelogenin for sex identification. DNA purification from suspect samples was completed in 2 hours, and subsequent STR analysis and generation of a "suspect" DNA profile took a further 3 hours. The entire process from sample collection to generation of a CODIS "hit" took 6 hours. (3922)

Notes: The authors developed seven new human embryonic stem cell (hESC) lines, five with normal karyotypes and two with abnormal karyotypes. They examined their biological characteristics, STR loci, HLA typing, differentiation capability, imprinted genes, DNA methylation and X chromosome inactivation status to determine if hESC lines with abnormal karyotypes are useful experimental tools. STR genotyping was performed using the PowerPlex® 16 System and the ABI PRISM® 3100 Genetic Analyzer. (4040)

Notes: The authors identified a Y-chromosome-specific polymorphism, the M293 mutation, that defines the Y haplotype Eb1f-M293. They examined the geographic distribution of this and other Y haplotypes to determine the date of origin of the E3b1f-M293 haplotype and track the migration of the pastoralist lifestyle in Africa. Y-STR analysis was performed using the PowerPlex® Y System and two additional sets of primers. (4039)

Notes: The authors determined the allele frequencies for 21 autosomal STR loci in 936 individuals from the Royal Kingdom of Bhutan using the AmpFlSTR^® Identifiler^® kit, PowerPlex^® 16 System and the F13A01, FESFPS, F13B, LPL (FFFL) Multiplex. DNA was extracted from whole blood samples using the Autopure LS^® kit and amplified as directed by the manufacturers. Amplified products were detected using an ABI PRISM^® 3100 Genetic Analyzer. (3822)

Notes: Allele frequency data for 21 autosomal loci was studied in 953 unrelated individuals belonging to 12 major Nepalese groups. DNA was extracted from whole blood using the Autopure LS^® kit, then amplified using the PowerPlex^® 16 System, AmpFlSTR^® Identifiler^® kit or F13A01, FESFPS, F13B, LPL Multiplex (FFFL) Multiplex. Amplification products were analyzed using the ABI PRISM^® 3100 Genetic Analyzer. Several new alleles not reported in the NIST short tandem repeat database were detected in this population. (3811)

Notes: The authors generated population data from 200 unrelated individuals in the Sichuan area of China using the PowerPlex^® 16 System. DNA was isolated from blood by phenol:chloroform extraction and quantitated by UV spectrometry. One nanogram of DNA was amplified, and the amplification products were analyzed on an ABI PRISM^® 310 Genetic Analyzer. (3810)

Notes: During casework analysis using the PowerPlex^® 16 System, the authors identified an off-ladder allele at the Penta D locus as the microvariant allele 9.2. DNA from individuals with the 9.2 allele was amplified using a single primer pair specific for Penta D, and the amplification products were purified and sequenced to characterize the microvariant allele. PCR products were purified using the Wizard^® PCR Preps DNA Purification System. Sequence analysis revealed that the 9.2 allele has 10 STR repeats and a TAA deletion in the 3´ flanking region. (3771)

Notes: The authors analyzed 1,308 samples for concordance between the Identifiler^® kit, AmpFlSTR^® Minifiler™ kit and PowerPlex^® 16 System. DNA was isolated from liquid blood using the manual DNA IQ™ System protocol, and STR amplifications were performed as per the manufacturer's recommendations except that reaction volumes were decreased by half. Amplified products were analyzed using an Applied Biosystems 3130xl and POP™-4 or POP™-6 polymer. Twenty seven disconcordant phenotypes were identified between the Minifiler™ and Identifiler^® kits, 14 between Minifiler™ and PowerPlex^® 16 kits, and 4 between PowerPlex^® 16 and Identifiler^® kits. (3770)

Notes: The authors used the PowerPlex^® 16 System to perform DNA typing of 27 sets of World War II skeletal remains found in two mass graves in Slovenia. Each bone sample was sanded to remove potential contaminants from exterior surfaces, then washed and air-dried. The same procedure was used to process teeth, except that the teeth were not sanded. DNA was isolated from the bone powder using organic extraction, then quantified. DNA was amplified using the PowerPlex^® 16 System as per the manufacturer's recommendations; for samples with small amounts of DNA, the number of cycles was increased to 32 and the elongation time extended to 90 seconds. Fifteen sets of remains yielded full profiles, and 12 sets yielded partial profiles, with the least successful profile including 13 loci. DNA was also extracted and amplified from 69 reference buccal swab samples from potential relatives. (3817)

Notes: The authors compared two DNA extraction methods: the International Commission on Missing Persons silica method and the standard phenol:chloroform method to determine the preferred method for extraction of DNA from skeletal remains. The efficacy of DNA extraction was measured by real-time PCR to quantify DNA and to check for the presence of PCR inhibitors, and by amplification with the PowerPlex^® 16 System. DNA was extracted from processed bone powder, and 10µl of the final extract was amplified using the PowerPlex^® 16 System and GeneAmp^® PCR System 9700 according to the manufacturer's recommendations, except that the extension time was doubled from 30 seconds to 60 seconds for the first 10 cycles and from 45 seconds to 90 seconds for the next 22 cycles. Amplified products were detected using the ABI PRISM^® 3100 Genetic Analyzer. The authors concluded that the silica-based method gave better results in autosomal STR typing than the organic extraction method. (3818)

Notes: The authors analyzed duplicate buccal swabs and observed eight disconcordant phenotypes with SGM Plus™ (2 at TH01, 4 at vWA and 2 at D18S51) and one disconcordant phenotype (at D18S51) with PowerPlex^® 16 out of a total of 1,377 individuals. In each case, the discrepancy was due to allele dropout of the second allele in a heterozygous genotype. DNA sequencing using primers that encompass the locus-specific STR primers was performed to characterize the mutations responsible for allele dropout for each locus. (3769)

Notes: The authors describe two cases of paternity dispute, one with a maternally mismatched allele at the D18S51 locus and a second with a paternally mismatched D18S51 allele. Seventeen autosomal STR loci were analyzed using the PowerPlex^® 16 System and AmpFlSTR^® Identifiler^® kit. Amplifications were performed using a GeneAmp^® PCR System 9700, and amplification products were detected using an ABI PRISM^® 310 Genetic Analyzer. Y-STR loci and mitochondrial DNA hypervariable regions HV1 and HV2 were also examined. Sequence analysis of the D18S51 locus revealed an expansion of the maternal allele by one repeat unit in one case and an expansion of the paternal allele by two repeat units in the second case. (3809)