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Multiple-allele single nucleotide polymorphisms (SNPs) are potentially useful for forensic DNA analysis as they can provide more discrimination power than normal binary SNPs. In addition, the presence in a profile of more than two alleles per marker provides a clearer indication of mixed DNA than assessments of imbalanced signals in the peak pairs of binary SNPs. Using the 1000 Genomes Phase III human variant data release of 2014 as the starting point, this study collated 961 tetra-allelic SNPs that pass minimum sequence quality thresholds and where four separate nucleotide substitution alleles were detected. Although most of these loci had three of the four alleles in combined frequencies of 2% or less, 160 had high heterozygosities with 50 exceeding those of ‘ideal’ 0.5:0.5 binary SNPs. From this set of most polymorphic tetra-allelic SNPs, we identified markers most informative for forensic purposes and explored these loci in detail. Subsets of the most polymorphic tetra-allelic SNPs will make useful additions to current panels of forensic identification SNPs and ancestry-informative SNPs. The 24 most discriminatory tetra-allelic SNPs were estimated to detect more than two alleles in at least one marker per profile in 99.9% of mixtures of African contributors. In European contributor mixtures 99.4% of profiles would show multiple allele patterns, but this drops to 92.6% of East Asian contributor mixtures due to reduced levels of polymorphism for the 24 SNPs in this population group. 相似文献
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Plastics are indispensable and persistent materials used in daily life that can be fragmented into micro- or nanoplastics. They are long polymer chains mixed with additives that can be toxic when in contact with distinct species. The toxicity can result from polymer matrix, additives, degradation products and adsorbed contaminants. Notwithstanding, there is still an immense gap of information concerning the individual and mixed impacts of plastics. Hence, in this study, we characterize the most common plastic materials widely used in our daily life by its polymer type and compile the environmental and human health hazards of these polymers including the impacts of monomers, additives, degradation products and adsorbed contaminants based on literature review. In summary, polyvinyl chloride is the most toxic polymer type used daily (monomer and additives); additives are more toxic than monomers to wildlife and humans; and the most toxic additives are benzene, phthalates and lead stabilisers. 相似文献
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In the present study, 67 individuals from two families were analyzed to explore the efficacy of the ForenSeq™ DNA Signature Prep Kit for pairwise kinship analysis. Six types of pairwise relationships including 81 parent-offspring, 60 full siblings, 48 grandparent-grandchildren, 147 uncle/aunt-nephew/nieces, 97 first cousins and 190 non-relatives were generated from these two families and the corresponding likelihood ratio (LR) was calculated using either sequence-based or length-based STR genotype data (i.e., LRsequence and LRlength). In addition, 10,000 pairs of different relationships were simulated to estimate the system powers of the STRs and SNPs in this panel. The results showed that 54, 9 and 5 additional alleles were observed based on sequence for 27 autosomal STRs, 24 Y-STRs and 7 X-STRs, respectively, compared to those based on length information and 11 novel alleles were identified. Five mutations were found for 58 STRs in 81 parent-offspring but no mutations were observed for SNPs. For 27 autosomal STR loci, the LRs were increased from 9.20, 7.87, 2.01, 2.07, 0.42 for log10LRlength to 11.52, 10.12, 2.61, 2.60, 0.52 for log10LRsequence for paternity index (PI), full siblings index (FSI), grandparent-grandchild index (GI), uncle/aunt-nephew/niece index (UNI) and first cousins index (FCI), respectively. PI values for 94 SNPs separated more than those of 27 STRs if two individuals were non parent-offspring relatives. For the simulation study, the effectiveness was 1 for the parent-offspring relationship at the thresholds of t1 = − 4 and t2 = 4 and was 0.9998 for full siblings (t1 = − 2, t2 = 2). With an error rate of 0.42%, 93.02% of second degree relatives could be identified at the thresholds of t1 = − 1 and t2 = 1. However, the effectiveness was only 0.4300 for first cousins with a relatively high error rate of 2.68% (t1 = − 1, t2 = 1). In conclusion, STR typing according to the sequence information is more polymorphic, which increases the discrimination power for kinship testing. Compared to these 27 STR markers, 94 SNP markers in this panel have advantages in paternity testing especially when mutated STRs are involved or when a relative is an alleged parent. This panel is powerful enough to resolve paternity and full sibling testing. Most of the second degree relationships could be identified with low error rate while more markers are still needed for first cousins testing. 相似文献
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针对人工滴染血涂片出现的染色不均匀、效率较低等问题,提出一种基于压力旋流雾化喷头对血涂片进行喷染的方法。采用数值模拟与实验相结合的方法对瑞氏-姬姆萨染液雾化过程进行分析,并探索最佳喷染参数。首先利用ANSYS软件仿真计算染液在喷头内部的流动状态,然后使用相机和喷雾激光粒度仪搭建喷头外部雾化场实验平台,喷头外部入口压力分别选取0.10、0.12、0.14、0.16、0.18、0.20、0.22、0.24 MPa,测量染液的雾化角以及喷头正下方10~50 mm的雾化区域内测量点的雾滴粒径参数(Dv10,Dv90和雾滴体积中径Dv50),计算粒度分布跨度S,并在此基础上开展血涂片喷染研究,并对比了人工滴染和喷染后的细胞图像背景灰度参数。仿真结果表明:染液在压力旋流雾化喷头出口处形成高速液膜,为形成雾化场提供理论依据。实验结果表明:当喷头入口压力为0.20 MPa时,距离喷头正下方35 mm处喷染界面具备最优的雾化质量,此时喷头雾化角为76.13°,雾滴体积中径为75 μm,雾滴粒度分布跨度为1.72。基于该参数条件进行喷染后的细胞图像背景灰度参数与滴染相比存在显著性差异(P<0.01),喷染后的细胞图像背景灰度显著降低。研究结果表明,压力旋流雾化喷头可以应用于血涂片染色,并且喷染后的血涂片染色均匀,具备良好的染色效果,为血涂片染色提供了新的方案。 相似文献
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《Forensic science international. Genetics》2013,7(1):214-216
The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region. 相似文献
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The present study was designed to investigate the effect of CdCl2-polluted drinking water (40 mg CdCl2/L) on the level of TNF-α and IL-6, as well as oxidative status biomarkers in plasma of rats. The possible protective effect of oral administration of curcumin (50 mg/kg body weight/day) was assessed. Results illustrated that Cd exposure significantly elevated the plasma levels of TNF-α and IL-6 (p < 0.001) as compared to normal rats. Also, Cd administration resulted in a significant elevation in the lipid peroxidation and markedly reduction in the activities of SOD and catalase as well as the level of glutathione and total antioxidant capacity in plasma. The co-treatment of Cd with curcumin significantly reduced the levels of TNF-α and IL-6 and ameliorated the alteration in oxidative status biomarkers induced by Cd. Negative correlation between IL-6 or TNF-α was and the plasma activities of catalase, SOD and the level of total antioxidant capacity were found in rats exposed to Cd. Conclusion: Cadmium toxicity induced the release of TNF-α and IL-6 which is associated with systemic oxidative stress. This may be involved in the mechanism of the Cd toxicity. On the other hand, the findings suggest the curative action of curcumin against Cd toxicity. 相似文献