Variability at 15 autosomal microsatellite DNA loci in Russian population

The paper presents allele frequencies at 15 STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSFIPO, D5S818, D13S317, D7S820, D16S539, D2Sl338, D8S1179, D21S1l, D18S51, D19S433), used in forensic medicine, in Russian sample (n = 176) representing population of the European part of the Russian Federation. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 STR loci were 0.999 999 999 999 999 986 and 0.999 999 331 310 171 000, respectively. The data obtained for allele and genotype frequencies conformed to Hardy-Weinberg expectations. According to the presented data, loci D2S1338, D18S51, D21Sll and FGA are the most informative markers for Russians. The data obtained may be used as reference database for forensic medicine laboratories in Russian Federation.     

Genetic data for 15 STR loci in a Kadazan-Dusun population from East Malaysia

Allele frequencies of 15 short tandem repeat (STR) loci, namely D5S818, D7S820, D13S317, D16S539, TH01, TPOX, Penta D, Penta E, D3S1358, D8S1179, D18S51, D21S11, CSF1PO, vWA, and FGA, were determined for 154 individuals from the Kadazan-Dusun tribe, an indigenous population of East Malaysia. All loci were amplified by polymerase chain reaction, using the Powerplex 16 system. Alleles were typed using a gene analyzer and the Genemapper ID software. Various statistical parameters were calculated and the combined power of discrimination for the 15 loci in the population was calculated as 0.999999999999999. These loci are thus, informative and can be used effectively in forensic and genetic studies of this indigenous population.     

Comparative study of genetic variation at 15 STR loci in three isolated populations of the Bosnian mountain area

Fifteen autosomal STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX, and FGA) were studied in three geographically close but isolated populations from the Bosnian mountain area. The three villages are Bobovica, Dejcici, and Lukomir. DNA was obtained from 83 individuals, and the allele frequencies and genetic diversity among the three sample groups were compared. In addition, seven of the STR loci (CSF1PO, D13S317, D3S1358, D5S818, D7S820, FGA, TH01) were used in a comparative population analysis of the Bjelasnica-Treskavica region and the Adriatic islands of Brac, Hvar, and Korcula. Although the sample sizes are relatively small, the observed variation within any of the small isolated populations is high and comparable to less isolated groups. In addition, even though the populations are geographically isolated, the STR data are similar among the populations. The most significant frequency differences were observed at the TH01 locus. Although the specific allele distributions in any untyped population cannot be determined a priori, we find support for a high degree of diversity for the STR loci in most populations. In addition, the multiple locus profile is highly informative not only for various population studies but also for forensic studies, even when specific population data are not available.     

西藏藏族人群15个短串联重复序列基因座的遗传多态性

利用多重PCR五色荧光(6FAM、VIC、NED、PET、LIZ)自动化检测技术检测西藏自治区藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818及FGA共15个STR基因座遗传多态性, 获得15个STR基因座的群体遗传学数据。结果显示：15个STR基因座的基因型分布符合Hardy-Weinberg平衡。15个STR基因座的个体鉴别力 (Discrimination power, DP)在0.7555~0.9602之间, 杂合度 (Heterozygosity, H)在0.5651~0.8530之间, 多态性信息含量 (Polymorphism information content, PIC)在0.5528~0.8456之间, 非父排除率(Probability of paternity exclusion, EPP)在0.3811~0.8549之间, 累积个体鉴别力为0.999999999, 累积非父排除率为0.999999998。15个短串联重复序列基因座适合作为西藏藏族人群的遗传标记, 用于人类学、疾病连锁分析、法医学亲子鉴定和个体识别等领域的研究。     

Genetic data on 15 STR loci in the Caucasian population of the Russian Federation

Population genetic data for the 15 STR loci included in the AmpFlSTR Identifier kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) obtained from 1118 unrelated Caucasian individuals from the Russian Federation are presented. In addition, a number of forensically useful genetic parameters are reported.     

湖南省汉族人群15个STR基因座多态性分析

应用美国AmpFISTR Indentifiler荧光标记复合扩增试剂盒,结合PE9700型PCR仪和美国ABI公司310型遗传分析仪,对湖南汉族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、vWA、TPOX、D18S51、D5S818和FGA共15个STR基因座进行多态性调查分析．结果显示15个STR基因座的基因型分布符合Hardy．Weinberg平衡。其杂合度（H）介于0．593～0．900,多态信息含量（PIC）介于O．54～0．85,个体识别力（DP）介于0．780～0．963,非父排除率（PE）介于0．282～0．785,累计个体识别力为（1～1．6×10^-17）〉0．99999999。累计非父排除率为0．9999995．证明15个STR基因座在湖南省汉族人群中具有较高的多态性。可应用于该地区群体学研究、法医学个体识别和亲权鉴定等．     

拉萨市藏族人群15个STR基因座多态性的研究

利用多重PCR和五色荧光(6FAM、VIC、NED、PET、LIZ)自动化检测技术调查西藏自治区拉萨市藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA共１5个STR基因座多态性分布, 获得了15个STR基因座的遗传学数据。结果显示: 15个STR基因座的基因型分布符合Hardy-Weinberg平衡。 15个STR基因座的个体鉴别力(DP)在0.7515~0.9599之间, 杂合度(H)在0.5576~0.8538之间, 多态信息含量(PIC)在0.5455~0.8458之间, 非父排除率(EPP)在0.3755~0.8520之间, 累积个体鉴别力为0.99999999, 累积非父排除率为0.999999997。15个STR基因座适合作为藏族人群的遗传标志用于人类学、遗传疾病连锁分析、法医学亲子鉴定和个体识别等研究领域。     

Genetic polymorphism analysis of 15 STR loci in Chinese Hui ethnic group residing in Qinghai province of China

In the present study, we investigated the diversity distributions of allelic frequencies of 15 short tandem repeats (STRs) loci in a sample of Chinese Hui ethnic group in the Ningxia Hui Autonomous Region. The allelic frequencies of the 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were obtained from 2975 unrelated healthy Hui individuals. The STR genotyping data of all the samples were generated by DNA extraction, multiple amplification, GeneScan and genotype analysis. The genetic distances among different populations were calculated by using Nei's method and a phylogenetic tree was constructed based on the allelic frequencies of the same 15 STR loci using the neighbor-joining method. A total of 185 alleles were observed in the Hui population, with the corresponding allelic frequencies ranging from 0.0002 to 0.5322. Chi-Square tests showed that all STR loci were in Hardy-Weinberg equilibrium. The forensic statistical parameters of all the loci showed high values. The population data in this study were compared with the previously published population data from other ethnics or areas. The Hui population showed significant differences from the Minnan Han, Uigur, Ewenki, Yi, Tibetan, Maonan and Malay ethnic minority groups in some loci, and from the South Morocco population and the Moroccan population in all the loci. Our results are valuable for human individual identification and paternity testing in the Chinese Hui population and are expected to enrich the genetic information resources of Chinese populations.     

Genetic profile of two Tibetan populations from China by analysis of 15 STR loci

Allele frequency data for the STR systems D3S1358, TH01, D21S11, D18S51, PENTAE, D5S818, D13S317, D7S820, D16S539, CSF1PO, PENTAD, VWA, D8S1179, TPOX, and FGA were determined in two population samples of unrelated, healthy Tibetan individuals. All loci met Hardy-Weinberg expectations, and there was no evidence of association of alleles among the 15 loci. These findings suggest that these STR loci could be particularly powerful tools in forensic medicine and could provide the necessary fundamental population genetic data for the reconstruction of recent human evolutionary history.     

西藏那曲地区藏族人群15个短串联重复序列位点多态性的研究

利用基因扫描技术调查西藏自治区那曲地区藏族人群D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818及FGA共15个短串联重复序列(STR)基因座多态性分布,获得15个基因座的群体遗传学数据。结果显示:15个STR位点在那曲地区藏族人群中具有遗传多态性,基因型分布符合Hardy-Weinberg平衡,DP在0.758 8—0.960 4之间,H在0.476 2—0.862 0之间,PIC在0.446 4—0.861 5之间,EPP在0.385 0—0.856 0之间,累积个体鉴别力为0.999 999 999,累积非父排除率为0.999 999 998。15个STR位点适合作为那曲地区藏族人群的遗传标记用于人类学、疾病连锁分析、法医学亲子鉴定和个体识别等领域的研究。     

Genetic analysis of 15 STR loci in Chinese Han population from West China

Allele frequencies for 15 short tandem repeat （STR） loci （D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA） were obtained from 7,636 unrelated individuals of Chinese Han population living in Qinghai and Chongqing, China. Totally 206 alleles were observed, with the corresponding allele frequencies ranging from 0.0001-0.4982. Chi-square test showed that all of the STR loci agreed with the Hardy-Weinberg equilibrium. We also compared our data with previously published population data of other ethnics or areas. The results are valuable for human identification and paternity testing in Chinese Han population.     

Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR? Identifiler? kit in a Bhil Tribe Population from Gujarat state,India

MATERIALS AND METHODS:

The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations.

RESULTS:

Statistical analysis of the data revealed all loci were within Hardy-Weinberg Equilibrium expectations with the exception of the locus vWA (0.019) and locus D18S51 (0.016). The neighbour joining phylogeny tree and Principal Co-ordinate Analysis plot constructed based on Fst distances from autosomal STRs allele frequencies of the present study and other national as well as international populations show clustering of all the South Asian populations in one branch of the tree, while Middle Eastern and African populations cluster in a separate branch.

CONCLUSION:

Our findings reveal strong genetic affinities seen between the Indo-European (IE) speaking Bhil Tribe of Gujarat and Dravidian groups of South India.     

The variation of 15 autosomal microsatellite DNA loci in five indigenous populations of South Siberia

The allele frequencies of 15 autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, D16S539, D2S1338, D8S1179, D21S11, D18S51, and D19S433) included into the AmpFlSTR SGM Plus and AmpFlSTR Profiler Plus kits (Applied Biosystems, United States) were determined for five indigenous populations of South Siberia: Buryats, Altaians, Tofalars, Sojots, and Khakassians (N = 261). No significant differences in allele frequencies were found between the populations. The combined power of discrimination of the STR loci was determined for every population.     

Variation of 15 autosomal microsatellite DNA loci in the Russian population

The allele frequencies of 15 autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, D16S539, D2S1338, D8S1179, D21S11, D18S51, and D19S433) used in forensic medicine were determined for the Russian population of European Russia (N = 176). The power of discrimination (PD) and power of exclusion (PE) of the system of the 15 STR loci were 0.999 999 999 999 999 986 and 0.999 999 331 310 171 000, respectively. The allele and genotype frequency distributions in the Russian population corresponded to the Hardy-Weinberg equilibrium. The D2S1338, D18S51, D21S11, and FGA loci were identified as the most informative markers for the Russian population and proposed as a reference for forensic studies in the Russian Federation.     

甘肃地区回族人群18个STR基因座的遗传多态性

研究了D5S818、D8S1179、D7S820、CSF1PO、D2S1338、D3S1358、v WA、D21S11、D16S539、Penta E、TPOX、TH01、D19S433、D18S51、FGA、D6S1043、D13S317、D12S391等18个短串联重复序列(short tandem repeats,STR)基因座在甘肃地区回族人群的遗传多态性。采用荧光标记复合扩增及毛细管电泳技术对1 038名甘肃地区回族无关个体18个STR基因座进行分析。研究结果显示,1 038名甘肃地区回族个体在18个STR基因座上,共检出223种等位基因,982种基因型,其分布均符合Hardy-Weinberg平衡(P0.05),18个基因座的杂合度(H)介于0.601~0.929之间,匹配概率(Pm)介于0.012~0.213之间,个体识别概率(DP)介于0.787~0.988之间,多态信息含量(PIC)介于0.550~0.920之间,非父排除概率(PE)值介于0.292~0.854之间。本文研究结果对甘肃地区回族人群群体遗传学及法医学后续研究应用具有参考价值。     

Genetic diversity and statistical parameters of 15 autosomal STR loci in the Pomeranian Subpopulation of Espirito Santo State,Brazil

Allelic frequencies and other population data analysis are reported for the 15 autosomal Short Tandem Repeats (STR) loci included in the PowerPlex^®16 kit (CSF1PO, D13S317, D16S539, D18S51, D21S11, D3S1358, D5S818, D7S820, D8S1179, FGA, Penta D, Penta E, TPOX, TH01 and vWA) in Pomeranian’s descendants from the Espirito Santo State (ES), Brazil, third largest population of Pomeranian’s descendants in the world. They chose the mountain region of the state for their preferred geographic location, and they have a very peculiar lifestyle with a selective mating behavior which has maintained their characteristics as a relatively pure subpopulation. Blood samples were obtained from 82 unrelated volunteers from 11 different cities of Espirito Santo State, where there are the Pomeranian’s descendants. All 15 loci analyzed showed Power of Discrimination (PD) values > 0.75. Except the TPOX locus, all analyzed loci were at Hardy–Weinberg equilibrium. This subpopulation has not yet been characterized for STR allelic frequencies used for forensic and genetic identification studies.     

Evaluation of reliability on STR typing at leukemic patients used for forensic purposes

Over the past decades, main advances in the field of molecular biology, coupled with benefits in genomic technologies, have led to detailed molecular investigations in the genetic diversity generated by researchers. Short tandem repeat (STR) loci are polymorphic loci found throughout all eukaryotic genome. DNA profiling identification, parental testing and kinship analysis by analysis of STR loci have been widely used in forensic sciences since 1993. Malignant tissues may sometimes be the source of biological material for forensic analysis, including identification of individuals or paternity testing. There are a number of studies on microsatellite instability in different types of tumors by comparing the STR profiles of malignant and healthy tissues on the same individuals. Defects in DNA repair pathways (non-repair or mis-repair) and metabolism lead to an accumulation of microsatellite alterations in genomic DNA of various cancer types that result genomic instabilities on forensic analyses. Common forms of genomic instability are loss of heterozygosity (LOH) and microsatellite instability (MSI). In this study, the applicability of autosomal STR markers, which are routinely used in forensic analysis, were investigated in order to detect genotypes in blood samples collected from leukemic patients to estimate the reliability of the results when malignant tissues are used as a source of forensic individual identification. Specimens were collected from 90 acute and 10 chronic leukemia volunteers with oral swabs as well as their paired peripheral blood samples from the Oncology Centre of the Department of Hematology at Istanbul University, during the years 2010–2011. Specimens were tested and compared with 16 somatic STR loci (CSFIPO, THO1, TPOX, vWA, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11 and FGA) widely used in forensic identification and kinship. Only two STR instabilities were encountered among 100 specimens. An MSI in the FGA loci and a LOH in the D2S1338 loci were determined in two individuals separately. Our results demonstrate that the use of the biological samples from leukemia patients in forensic identification and kinship testing is questionable, especially if known microsatellite instability is available. Genetic instabilities may alter the STR polymorphism, leading to potential errors on forensic identification of individuals. Therefore, typing of autosomal STRs from leukemia patients should be performed with both healthy and malignant tissue samples of individual as references.     

Short-tandem repeat analysis in seven Chinese regional populations

In the present study, we investigated the application of 13 short tandem repeat (STR) loci (D13S317, D7S820, TH01, D16S539, CSFIPO, VWA, D8S1179, TPOX, FGA, D3S1358, D21S11, D18S51 and D5S818) routinely used in forensic analysis, for delineating population relationships among seven human populations representing the two major geographic groups, namely the southern and northern Chinese. The resulting single topology revealed pronounced geographic and population partitioning, consistent with the differences in geographic location, languages and eating habits. These findings suggest that forensic STR loci might be particularly powerful tools in providing the necessary fine resolution for reconstructing recent human evolutionary history.     

Paternity testing and forensic DNA typing by multiplex STR analysis using ABI PRISM 310 Genetic Analyzer

Short tandem repeats (STRs) are widespread throughout the human genome and are a rich source of highly polymorphic markers which can be detected by PCR. To gain a better appreciation for how the polymorphism at a particular locus impacts the individual identity, the present study was undertaken to explore the use of 15 STR loci in forensic investigation and paternity testing. Multiplex STR typing was used to study the 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) in addition to a gender identification marker, amelogenin, by capillary electrophoresis on 310 Genetic Analyzer. Samples from 85 trio and duo cases of disputed paternity were investigated. The data were analyzed to give information on paternity index, probability of paternity, frequency of number of exclusions and rate of mismatch at each STR locus. The method was also successfully applied to forensic personal identification in theft and murder cases. The results demonstrated that the STR typing is a reliable and robust tool for analyzing the forensic practice as well as for paternity testing. The advantages of using multiplex STR analysis over other conventional methods are discussed.     

Autosomal STR variation in a Basque population: Vizcaya Province

We have characterized 68 unrelated Basque individuals from Vizcaya, Spain, for 13 tetrameric short tandem repeat (STR) loci: CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, and VWA. Interpopulational analyses were also performed for 21 European and North African population data sets for nine of the STRs typed in the Basque sample. Heterozygosity values for the Vizcayan Basques were found to be high, ranging from 0.662 to 0.882, and none of the STR loci significantly deviated from Hardy-Weinberg equilibrium. Based on the comparative population data set, the average G(ST) score is 0.7%, indicating a low degree of genetic differentiation. However, neighbor-joining trees and multidimensional-scaling plots of D(A) genetic distances indicate that the Vizcayan Basques are an outlier relative to both neighboring Iberians and North African populations.