Microsatellite autosomal genotyping data in four indigenous populations from El Salvador

Fifteen microsatellite loci (D3S1358, TH01, D21S11, D18S51, PENTA E, D5S818, D13S317, D7S820, D16S539, CSF1PO, PENTA D, vWA, D8S1179, TPOX, and FGA) have been genotyped in four indigenous populations from El Salvador (Central America), namely, Conchagua, Izalco, Panchimalco, and San Alejo. Here we have obtained values for several indices of forensic interest for these population samples. Population differentiation test showed no significant statistical differences between these four populations, and an AMOVA test indicates that most of the genetic variation (approximately 100%) occurs within individuals. Population pairwise genetic comparisons with other population samples seem to indicate the existence of a major Native American component in the populations from El Salvador.     

Study of the high polymorphism STR locus-FGA in Chinese population

Population genetic study of the complicated STR locus-FGA was performed by the method of PCR in Han population samples. A total of 21 different alleles including 7 interalleles and 63 different genotypes were observed in 349 unrelated individuals. The observed genotype discrimination showed no significant deviation from Hardy-Weinberg equilibrium and 51 family studies showed no mutation. According to the results obtained in this study(DP = 0.9612, PE = 0.7007, PIC = 0.8333), this system can be used as an useful means in forensic identification of both criminal and paternity case.     

Population data for 15 Y-chromosome STRs in a population sample from Quito (Ecuador)

Population frequencies for the 9 Y-STR loci included in the "minimal haplotype" from Y-STR Haplotype Reference Database (YHRD), plus other 6 Y-STRs (DYS437, DYS438, DYS439, GATA A7.2, GATA H4 and GATA A10) were obtained for a sample of 120 males from Quito (Ecuador). One hundred and sixteen unique haplotypes were identified within the sample. Haplotype diversity (0.9994) was among the highest in comparison to other populations from Iberia and South-America. Genetic distances were calculated and our sample presented significative differences with all other samples, the lowest values being with a Guinean sample.     

活体跟骨数字X线片性别判定

目的应用数字X线摄影方法测量跟骨,评估5项测量指标在法医学性别判定中的价值。方法393例受试对象随机分组,实验组334例(男性148例,女性186例),验证组59例(男性26例,女性33例)。每一受试对象按照规定投照方法摄跟骨侧位DR片,分别测量5项跟骨长度指标。方差分析检验实验组各项指标性别间差异,Fisher判别分析及多元逐步判别分析建立性别判别函数。验证组样本数据回代,前瞻性评估判别效能。结果5项指标性别差异有统计学意义(P<0.001)。共建立了6组性别判别函数,性别判断正确率在78.4%～88.9%之间;回代检验,判断正确率在79.7%～86.4%之间。结论跟骨侧位数字X线片5项长度测量指标代入判别函数进行性别判定的方法可为法医学个人识别中的性别判定提供帮助。     

Population frequency for the short tandem repeat loci D18S849, D3S1744, and D12S1090 in Caucasian-Mestizo and African descent populations of Colombia

Blood samples from 489 unrelated Caucasian Mestizo and 252 individuals of African descent in Colombia were amplified and typed for three short tandem repeat (STR) markers (D12S1090, D3S1744, and D18S849). All markers conformed to Hardy-Weinberg equilibrium expectations in both populations studied. In addition, heterozygosity, mean exclusion chance, polymorphism information content, discrimination power, and the assumption of independence within and between loci were determined. The mean exclusion chance for all three STR markers is 0.9750 in the Caucasian Mestizo population and 0.9731 in the African Colombian Population. The discrimination power is 0.999925 and 0.999911 in the Caucasian Mestizo and African Colombian respectively.     

人类D19S40基因座在不同人种中的遗传多态性研究

采用ＰＣＲ技术分析中国汉族、德国人、斯洛伐克人和美国黑人群体Ｄ１９Ｓ４００基因座的遗传多态性及世界三大人种之间的差异。四个群体共调查了６２０人,发现了１１个等位基因,观察到４７种基因型。各群体观察杂合度为：０．７８～０．８８,个人识别机率为：０．９３８５０～０．９６６４。四个群体基因型频率分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡（Ｐ＞０．０５）,三大人种（蒙古人种、高加索人种、美国黑人）之间Ｄ１９Ｓ４００基因座等位基因频率分布存在极显著差异（Ｐ＜０．０１）。结果显示Ｄ１９Ｓ４００基因座在群体遗传学研究和法医学个人识别中有较高应用价值     

The single most polymorphic STR Locus: SE33 performance in U.S. populations

The STR locus SE33 (ACTBP2) located on chromosome 6 (6q14) is arguably the most polymorphic marker examined thus far by the forensic community with a heterozygosity of >0.95 in some populations. Three different primer sets were utilized in this study in order to assess the possibilities of primer binding site mutations. Population variation was measured in 460 U.S. Caucasian, 445 African American, 336 Hispanic, and 202 Asian samples along with mutation rates from almost 400 father–son pairs. In addition, the 10 genomic DNA components in NIST Standard Reference Material SRM 2391b were sequenced and found to exhibit a variety of additional base changes, insertions, and deletions outside of the SE33 repeat region.     

The Evidentiary Significance of Automotive Paint from the Northeast: A Study of Red Paint

This population study was conducted to assess the frequency of physical, microscopical, and chemical properties of automotive paint chips. Population studies of trace evidence provide valuable analytical data for criminalists to assess evidentiary significance. Two‐hundred automotive paint chips were collected from auto body shops from the Northeastern United States. All samples were analyzed using stereomicroscopy, brightfield, and polarized light microscopy. Red paints were targeted for further analysis using a sequence of modern instrumental techniques commonly used by forensic paint examiners: Fourier‐transform infrared (FT‐IR), Raman, and ultraviolet–visible (UV–Vis) microspectroscopy. The discrimination potential of each analytical method was evaluated by inter‐comparing the paint samples. Results demonstrated that macroscopic and microscopic properties were able to differentiate 99.995% of the population (one undifferentiated pair out of 19,900). When combined with either FT‐IR or UV–Vis microspectroscopy, all paints were differentiated. The results of this research lead to the conclusion that one would not expect to encounter two indistinguishable paint chips originating from different sources during the investigation of a single event.     

广东广西地区5个群体9个STR基因座的频率调查

目的 调查广东汉族、广西汉族、广西侗族、广西壮族、广西苗族5个群体9个STR基因座多态性,探讨其在法医学检验中的应用价值。方法 应用AmpFISTR Profiler PlusTM荧光标记复合扩增系统,对广东广西5个群体4个民族的1191个无关个体的血样DNA进行9个STR基因座的复合扩增;用ABI 3100遗传分析仪对扩增产物进行分型,统计9个STR基因座的群体遗传学参数。结果 9个STR基因座在广东广西地区5个群体中的累积偶合率为1.51×10-11～8.08×10-11,累积非父排除率为0.99981—0.99990。,结论 该9个STR基因座可满足汉族、壮族、侗族、苗族群体法医学的个体识别及亲权鉴定的需要。     

A collaborative genetic study on the STR system FGA in two Austrian population samples

Population genetic data of the short tandem repeat system FGA were determined by PCR analysis in two Austrian population samples, one population north of the Alps and one population south of the Alps. A total of 15 different alleles could be observed in 500 unrelated individuals. No significant differences were found between the phenotype frequencies in the two populations, as determined by R×C contingency test, so the populations could be pooled for further analysis. Both the single populations and the pooled population are in accordance with Hardy–Weinberg equilibrium. FGA proves to be very efficient for both stain analysis and paternity testing. The presented allele and genotype data allow the statistical interpretation of this system for Austrians.     

华东汉族人群乙醇代谢酶相关SNP位点的多态性

目的对ADH2、ADH3、ALDH2和CYP2E1基因的40个SNP位点进行群体遗传学分析,得到多态性信息。方法利用PCR和质谱技术平台对SNP位点进行分型检测,通过对中国华东地区汉族人群199个无关个体的调查,统计分析40个SNP位点的等位基因分布频率。结果 40个SNP位点中,rs698、rs2241894（ADH3基因座）,rs13306164、rs671（ALDH2基因座）和rs28371746、rs2515641（CYP2E1基因座）的小等位基因分布频率（MAF）均大于1%,其它SNP位点的MAF均小于1%。结论 ADH2、ADH3、ALDH2和CYP2E1基因的40个SNP位点中,6个位点（rs698、rs2241894、rs13306164、rs671、rs28371746和rs2515641）在华东汉族人群中具有多态性。     

Genetic data of 10 X-STRs in a Spanish population sample

In this work, we present population genetic data of 10 X-chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) obtained from sample of 145 unrelated female individuals belonging to Valencia (Spain), a region located in the east of the Iberian Peninsula. All the markers studied present high genetic diversities, similar to those previously reported in other European population samples. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS101 locus. Allele frequencies and parameters of forensic interest for each X-STR were calculated. High mean exclusion chance and power of discrimination values were obtained by combining these 10 X-linked markers. Population comparisons (exact test of population differentiation; pairwise genetic distances) were carried out and low genetic distances were found between our sample and those from other Spanish or European regions.     

Construction and application of four fluorescence labeled multiplex typing system for 3 miniSTR loci

We constructed a multiplex PCR system for 3 miniSTR loci D20S482, D3S3053, D6S474. This typing system showed high stability and sensitivity (0.05 ng). Population data investigated in 120 healthy unrelated Chinese Han individuals showed higher genetic polymorphism, with the combined power of discrimination and power of exclusion being 0.998 and 0.84. The amplification product length ranged from 88 bp to 127 bp for all three loci. The successful rate of typing highly degraded samples using this miniSTR multiplex PCR system was significantly higher than using identifiler kit, indicating the multiplex set represents a useful tool in Chinese forensic practice, especially for the highly degraded DNA sample.     

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal

The 17 Y-chromosomal short tandem repeats (STRs) included in the AmpFlSTR YFiler Amplification Kit (AB Applied Biosystems) (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in 250 samples from Portugal. A total of 231 different haplotypes were found, where 17 haplotypes were shared by two individuals and one haplotype by three. The overall haplotype diversity (HD) was 0.9994. DYS458 non-consensus alleles found in 5 samples (out of 85) are all associated with paragroup J*(xJ1,2). Population comparisons with available Yfiler loci data in European samples were undertaken, namely with Northern Portuguese data (N=174) where no significant differences were observed with our sample (Rst=0.0000; P=0.8649+/-0.0310). Since both Portuguese databases can be joined (N=424; HD=0.9997; 394 distinct haplotypes), a study on the best loci for HD increment in this sample was also undertaken: by fixing the haplotypes generated from the minimal haplotype and SWGDAM core set (www.yhrd.org) and adding the other Yfiler loci one by one, the order in which the loci contribute more is DYS458, DYS456, GATA H4.1, DYS437 or DYS635, and finally DYS448. Therefore, at least in this population sample, all Yfiler loci are contributing for haplotype discrimination.     

Allele frequencies of 20 Y-chromosomal short tandem repeat loci in a tribal population of Deccan Plateau, India

Population: Eighty male individuals from a nomadic tribal population belonging to Dravidian and Indo-Caucasian ethnicities from Deccan Plateau, Andhra Pradesh, India, were analyzed in the present study.     

复合扩增D16S539、D7S820、D13S317基因座的DNA分型及法医学应用

通过对3个位于不同染色体上的STR基因座（D165539,D7S820,D13S317）所组成的复合扩增体系的DNA分型研究,以期在实际法医物证检验中增加检验基因座,以提高总的个体识别率。笔者运用复合扩增技术,经4％变性聚丙烯酸胺凝胶电泳分离扩增产物和银染检测,首次对108个无关中国人个体的D16S539,D7S820,D13S317基因座进行研究,检测出中国人群中3个基因座的等位基因数均为7个;偶合率P（m）分别为0．0847、0．0740、0．0741;个体识别率DP值分别为0．9153、0．9260、0．9259;杂合度分别为77．7％、79.1％、79．3％;各基因座亲子关系指数PItypical分别为2．24、2．39、2．42。3个STR基因座总的个体识别率很高,达0．9995;总的亲子关系指数PItypical达12．96;所有基因座经卡方检验符合Hardy－Weinberg平衡。通过以上数据可以看出,D165539,D7S820,D13S317基因座所组成的复合扩增体系在中国人群中等位基因分布较好,个体识别率很高,适合用于法医个体识别及亲子鉴定。     

STR data for PowerPlex 16 System from Neuquen population,SW Argentina

Allele frequencies for the 15 autosomic STR loci included in the PowerPlex 16 System kit (Promega) were estimated from a sample of 111 unrelated individuals living in Neuquen province, southwest of Argentina. Population showed to be in HWE.     

Polymorphism analysis of Y-chromosomal haplotypes in the Chinese Han population living in the Shaanxi province of China

Population: Chinese Han population living in the Shaanxi Province of China.     

STR data for PowerPlex 16 System from Buenos Aires population,Argentina

Allele frequencies for the 15 autosomic STR loci included in the PowerPlex 16 System kit (Promega Corp.) were estimated from a sample of 143 unrelated individuals living in Capital Federal and in Buenos Aires Metropolitan Area, Argentina. Population showed to be in HWE.     

DNA short tandem repeat profiling of three North Indian populations.

Population: Fifty healthy unrelated individuals were randomly chosen from each of the three populations viz., Bhargavas, Chaturvedies, and Brahmins. Three generation pedigree charts were prepared to ensure sirname endogamy in Bhargavas Chaturvedies and group endogamy in Brahmins subjects were chosen from several parts of Uttar Pradesh, a northern state of the Indian republic.