Genetic polymorphism of 14 non-CODIS STR loci for forensic use in southeast China population

We investigated 14 polymorphic STR loci (D1S2142, D2S1360, D3S1545, D7S1517, D10S2325, D12S391, D13S1492, D14S306, D15S659, D16S3253, D18S1270, D19S253, D20S470, D21S1437) which are not included in the standard sets of forensic loci (CODIS) in a sample of 216 unrelated healthy southeast Chinese individuals. The studied loci were highly informative and did not show departures from Hardy-Weinberg equilibrium. The accumulated powers of discrimination and power of exclusion for the 14 loci were 99.9999999999 and 99.999998%, respectively. No linkage was observed between the 14 loci and the traditional set of STR markers included in commercially available kits (the AmpFLSTR IdentifilerTM 15 System loci). We thus considered the studied 14 STRs are informative and when necessary, can be used as the candidate genetic markers in the study and application in genetics and forensic practice.     

Genetic polymorphism of 17 STR loci for forensic use in Chinese population from Shanghai in East China

Allele frequencies for 17 STR loci found in Identifier kit and PowerPlex^®16 Monoplex System were determined in a sample of 1000 unrelated individuals living in Shanghai in East China. The values of observed heterozygosity (Ho), power of discrimination (PD), probability of paternity exclusion (PE) and polymorphism information content (PIC) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (p < 0.05). The obtained frequency distributions were compared with other previously reported population data.     

Evaluating population structure of Ecuador for forensic STR markers

The continuous admixture events among Europeans, Native Americans, and Africans occurred differently throughout the Ecuadorian territory, creating a diversified genetic composition. Therefore, to evaluate how the genetic diversity is partitioned along the country for 15 STRs, 842 admixed-population samples were analyzed. We also evaluated the effect of applying an adjustment for population structure when estimating LRs using a national database. The results showed that to accurately assess forensic evidence, the use of a national database may be justified with the application of an appropriate adjustment for population structure.     

法医学DNA提取试剂盒优化及适用性评价

目的用磁性纳米磁珠和自主设计的试剂体系及提取流程,来建立一种基因组DNA的快速提取优化方案。方法利用自主研制的法医DNA提取纯化试剂盒设计实验方案对陈旧棉签血样进行DNA提取,用紫外分光光度计分析定量,通过对实验结果进行分析比较进一步优化自主研发的法医学DNA提取试剂盒。用优化之后的试剂盒提取各种不同的疑难捡材,探索本试剂盒的适用性。结果通过优化试验条件,同样获得了各种检材理想的DNA提取效果,却大大降低了DNA样本的提取成本。结论经优化过的国产磁珠DNA提取试剂盒完全可以应用与法医DNA检测中。     

DNA甲基化在法医DNA分析中的应用

表观遗传学在生命的发生、发展过程中起着十分重要的作用。DNA甲基化作为表观遗传的一个重要方面,不仅参与多种基因的表达调控,与机体的发育、肿瘤发生等密切相关,而且具有可遗传性、相对稳定性、亲缘特异性、基因组中含量丰富等特点,已证实适用于法医DNA分析。本文对近年来DNA甲基化在印迹基因、同卵双生子鉴定、年龄、性别推断方面的研究与应用进行回顾与综述,以期为在法医学及相关领域中应用提供参考。     

中国蒙古族群体mtDNA测序的聚类分析及其法医学意义

目的建立一种既节省模板、又能延长测序长度的m tDNA单倍型(群)分析方法,构建中国蒙古族mtDNA单倍型类型关系树。方法用复合扩增、巢式PCR对201名中国蒙古族m tDNA样本进行D-环区、3010~3460、4640~5204、10171~10659和14478~15204编码区域的测序分析,部份样品进行L3953/H4508等区域的测序;根据其多态界定各样本单倍型并进行聚类分析。结果L15996/H107等巢式PCR扩增产物经测序检验结果互不干扰,其分型以A等东亚人群常见的单倍型(群)为主,包括部份HV、K、J、I和U等欧洲人群优势单倍型(群),23个单倍群和共53个单倍型全部归为欧亚人群特有的M和N两大类单倍类群并呈巢式聚类。结论本研究选取的测序区域适用于构建我国各民群的m tDNA单倍型(群);复合扩增、巢式PCR法既节省模板DNA,又延长测序的长度,适用于法医学、考古学研究中的微量样本的检测。     

Genetic polymorphism of 30 autosomal InDel loci in Chinese Hainan Li population

A novel genetic marker, Insertion/Deletion polymorphism (InDel) shows remarkable potential for forensic DNA applications. Hainan Island is the southernmost and the second largest island in China, of which the Li ethnic group is regarded as the original inhabitants. In this study, 207 individual samples of Li ethnic group from Hainan were genotyped using Investigator DIPplex kit which contains 30 autosomal InDels and Amelogenin. Allele frequency and forensic parameters were calculated for these loci. Several deviations from Hardy-Weinberg equilibrium (HWE) and linkage disequilibrium (LD) may indicate founder effect in the Li ethnic group. The combined power of discrimination (CPD) and the cumulative probability of exclusion (CPE) reached 0.99999999992912 and 0.9861, respectively. These results suggested that the kit was effective for personal identification in Hainan Li population. The population comparisons through the Nei’s standard genetic distance (R_st), phylogenetic tree, multidimensional scaling analysis (MDS), principal component analysis (PCA), and STRUCTURE analyses along continental divisions manifested that the 30 InDels panel had a certain intercontinental differentiation ability.     

广东壮族群体12个X-STR基因座的遗传多态性

目的 调查广东壮族群体DXS10103等12个 X-STR基因座的遗传多态性.方法 采用Investigator Argus X-12体系对200名广东壮族无关个体（男性100名,女性100名）进行12个X-STR的DNA分型.结果 该群体中12个X-STR基因座共检出143个等位基因,等位基因频率为0.0033～0.6433,等位基因分布均符合Hardy-Weinberg平衡.DXS10103与DXS10101基因座间存在连锁不平衡.各基因座的多态信息含量（PIC）为0.3944～0.9159,男性个体识别力（DPm）和女性个体识别力（DPf）分别为0.4815～0.9214和0.6441～0.9884,二联体和三联体的平均非父排除率分别为0.2625～0.8501（MECduo）和0.3944～0.9159（MECtrio）.累积男性个体识别力（CDPm）为0.999999998,累积女性个体识别力（CDPf）为0.999999999,累积二联体非父排除率（CMECduo）为0.999998271,累积三联体非父排除率（CMECtrio）为0.999999989.结论 Investigator Argus X-12系统在广东壮族群体中具有高度的多态性,本实验获得的群体数据可用于个体识别及亲缘关系鉴定案件的评估参考.     

Genetic STRs variation in a large population from Tuscany (Italy)

Allele frequencies for 17 STRs, together with some parameters of forensic interest, were estimated in a sample of 835 unrelated individuals born in Tuscany, an Italian region. These data were compared with Italian, Chinese, Kosovo Albanian, Romanian and Tunisian populations, strongly represented in this area. No significant differences in single loci were detected, except for Chinese in comparison with all the other populations.     

论法医专家顾问和法医鉴定结论的质证

根据证据学的观点提出法医鉴定结论是一种科学证据,指出无论是民事诉讼还是刑事诉讼中,对其进行质证对维护司法公正的必要性和重要性。由于法医鉴定结论的专业性,对其质证时,当事或控辩双方,以及法院聘请法医专家顾问,协助对法医鉴定结论的质证具有重要的意义。     

Use of subpopulation data in Australian forensic DNA casework

DNA profiling evidence presented in court should be accompanied by a reliable estimate of its evidential weight. In calculating such statistics, allele frequencies from commonly employed autosomal microsatellite loci are required. These allele frequencies should be collected at a level that appropriately represents the genetic diversity that exists in the population. Typically this occurs at broadly defined bio-geographic categories, such as Caucasian or Asian. Datasets are commonly administered at the jurisdictional level. This paper focuses on Australian jurisdictions and assesses whether this current practice is appropriate for Aboriginal Australian and Caucasian populations alike. In keeping with other studies we observe negligible differences between Caucasian populations within Australia when segregated geographically. However segregation of Aboriginal Australian population data along contemporary State and Territory lines appears to mask the diversity that exists within this subpopulation. For this reason datasets collated along more traditional lines may be more appropriate, particularly to distinguish the most genetically differentiated populations residing in the north of the continent.     

Genetic admixture and diversity estimations in the Mexican Mestizo population from Mexico City using 15 STR polymorphic markers

The 15 AmpFlSTR Identifiler loci D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA were analyzed in a sample of 378 unrelated individuals from Mexico City, Mexico. Significant deviations from HW equilibrium in 14/15 STR loci alleles were not detected. The D18S51 locus had the highest power of discrimination (0.970). Genetic admixture estimations revealed a 69% of Amerindian, 26% of European and 5% of African contribution. Comparative analyses between Mexicans and other neighboring populations reveal significant differences in genetic diversity. Our results are important for future comparative genetic studies in different Latin American ethnic groups, particularly Mexican Mestizos and Amerindians. They should also be helpful in genetics, population evolution, forensic and paternity testing.     

法医遗传学研究新进展

法医遗传学经过近30年发展,已经形成了一套系统的理论和技术体系,相关技术和方法在实际工作中发挥着重要作用。随着实际应用需求的变化和相关基础学科研究的进展,法医遗传学的研究也出现了新变化。本文针对法医遗传学领域的研究进展和发展趋势进行综述,希望能对相关研究和实践提供参考和借鉴。     

Accumulation of population polymorphisms in the mitonuclear genome with probable adaptive effect to extreme environments as altitude for forensic purposes

We analyzed the accumulation of population polymorphism in 2504 individuals - nuclear genomes (nDNA) of 26 populations (81 genes associated to extreme environments) and 3295 mitochondrial genomes (mtDNA) of 47 populations with the aim to found mitonuclear relationship associated an extremes environment as altitude. For that, we use an algorithm developed by us to determine the accumulation of polymorphisms by segments in the genome and thus be able to perform the multivariate analysis to found SNPs differences and similarities among populations. The results showed in Peruvian population a statistically significant mitonuclear relationship for 113/293970 nDNA SNPs in 16/81 genes. In the case of the mtDNA, we found a statistically significant mitonuclear relationship for 6/22 mtDNA positions – Gene. Additionally for the Peruvian population, the MRPP3 had the greatest polymorphism contribution with respect to other populations. Then, these nDNA and mtDNA SNPs in genetically close populations to Peru can be applied to forensic genomic phenotyping to identify groups likely adapted to extreme conditions (such as altitude) or make individualization between low and high altitude populations.     

A study on ten short tandem repeat systems: African immigrant and Spanish population data

This work presents the results obtained from a genetic–population study for the D1S1656 system in the population of Southwest Spain (Huelva, Cádiz and Sevilla), Spaniards of Caucasian origin from North Africa (Ceuta), as well as in the black Central West African and Moroccan immigrant populations in Spain. The results of a study of the autochtonous population of the Canary Islands (n=138), and immigrant Central West African populations in Spain (n=132), obtained for nine short tandem repeat (STR) loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820), as well as the amelogenin locus, all contained in Profiler Plus™ (Perkin-Elmer) PCR amplification kits, are also presented. Except for the FGA and VWA data on immigrant Central West African populations in Spain, no deviations from the Hardy–Weinberg equilibrium were detected.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Genetic variation at 15 autosomal microsatellite loci in the three highly endogamous tribal populations of Orissa, India

Although microsatellite diversity in autosomal chromosomes has been extensively described for many of the Indian populations, there is still a lacuna left on information about the genetic diversity of tribal populations. This paper reports the genetic data on the three tribal populations belonging to the Austroloid ethnic group from Orissa (Juang, Paroja and Saora). The 15 STR (D3S1358, THO1, D21S11, D18S51, PentaE, D5S818, D13S317, D7S820, D16S539, CSF1PO, PentaD, vWA, D8S1179, TPOX, FGA) polymorphism would help to accentuate the STR database for better understanding of population genetics and forensic applications. The microsatellites included in the system are found to be highly polymorphic, with the combined power of exclusion being greater than 0.999, in all the three investigated populations.     

中国法医学会物证专业委员会法医DNA分析的若干建议

中国法医学会法医物证学专业委员会与国际法医遗传学会中文专委会于2006年10月在成都召开学术会议。我们的讨论强调有必要将国际法医遗传学会的信息及时传递到中国。因此,按照国际法医遗传学会的指南,我们推荐混合斑分析,法医DNA数据库及新遗传标记选择标准供同行参考。     

人线粒体DNA序列分析在法医学中的应用研究及其进展

综述人线粒体DNA(m tDNA)序列分析在法医学种属鉴别、个体识别,以及个体年龄推断中的应用研究及其进展,展望对m tDNA异质性的研究及建立人m tDNA数据库,并具有重要的法医学实践意义。     

我国法医DNA技术标准化体系建设现状与展望

随着法医DNA技术的飞速发展和广泛应用,客观上必然要求以规范化、标准化的手段对其加以严格管理和正确引导。只有遵循标准化作业,检验所得出的结论才能更科学,更准确,更具有说服力达到为案件提供准确线索和为诉讼提供可信证据的要求。虽然,近年来法医DNA技术标准化工作得到了快速发展,但是仍然存在着不足。本文将对目前法医DNA技术标准的现状、存在问题及展望进行总结。