Geographic contiguity and genetic affinity among five ethnic populations of Manipur,India: further molecular studies based on VNTR and STR loci

Background : Apart from traditional markers studied among a few numerically small, geographically defined surveys among Mongoloid populations in northeastern parts of India, very little is known about their genomic diversity at the molecular level. Primary objective : This study seeks to investigate how best the variable number tandem repeat (VNTR) and short tandem repeat (STR) loci together can detect the patterns of the genetic affinity among five geographically contiguous, linguistically and socio-culturally diverse Mongoloid-affiliated populations of Manipur in northeastern regions of India. Subject and methods : Blood samples were collected from unrelated and randomly selected volunteers of five ethnic populations (Meitei, Kuki, Naga, Hmar and Manipuri Muslim) from different parts of the state. Allelic variation in four minisatellite loci (D1S7, D4S139, D5S110 and D17S79) and three STR loci (vWA, FESFPS and F13AO1) was studied. Results : Average heterozygosity values among the five groups for the minisatellite range from 68% to 94%, while the hypervariable three STR loci were between 60% and 88%. In the populations, all the studied loci were highly polymorphic, with almost no departure from Hardy-Weinberg equilibrium. The gene differentiation for the VNTR loci was lower and moderate ( G st = 0.030) in comparison with microsatellites ( G st = 0.043). The neighbour-joining method of clustering based on both type of molecular markers reveals a close cluster for the tribal groups of Kuki, Naga and Hmar, while Manipur Muslim stand distinct in both the trees. The clustering pattern obtained from the combined DNA marker loci matches more closely the pattern from STR loci than that obtained from VNTR loci. Conclusions : The results reinforce that using both VNTR and STR loci in detecting regional genetic affinity among the populations is more effective than using VNTR or STR independently, and also confirm the results obtained from the serological and electrophoretic data. However, the clustering pattern obtained from combined DNA markers is more in conformity with the pattern obtained by STR loci rather than with VNTR loci. Despite linguistic, geographical and cultural barriers, the populations show genetic affinity among the four populations except in the case of the migrant Manipur Muslim group.     

Genetic structure and affinity among eight ethnic populations of Eastern India: based on 22 polymorphic DNA loci.

The nature and extent of genetic variation at 22 polymorphic DNA loci, belonging to three distinct classes, especially, 12 STR loci (D3S1358, vWA, FGA, D5S818, D13S317, D7S820, D8S1179, D21S11, D18S51, HPRTB, F13B, LPL), four VNTR loci (D1S7, D4S139, D5S110, D17S79), and six coding loci (HLDQA1, LDLR, GYPA, HBGG, D7S8, GC) were investigated among eight population groups of West Bengal and Manipur regions of India. Of these, two groups from West Bengal belong to Caucasoid and six (one in WB and five in Manipur) belong to Mongoloid stock. Both STR and the expressed loci show wide diversity among the eight populations. For example, Manipur Muslims show differences in allele frequency when compared to four other regional populations. Similarly, Garo, one of the Mongoloid populations of West Bengal, differ in allele frequency from their counterparts in the Manipur region. Departure from Hardy-Weinberg expectations was observed at certain loci in a few populations (e.g., D21S1137 in Kayastha and Brahmin, HUM F13B in Meitei). Heterozygosity values were higher for Caucasoid than Mongoloid groups. The overall gene differentiation (GST) for STR loci is higher (5.3%) than for those at the expressed region (4.6%). The clustering pattern of the eight populations differs with respect to different classes of genetic markers used. The dendrograms based on six coding loci (HLDQA1, LDLR, GYPA, HBGG, D7S8, GC) differs from those based on STR and VNTR markers. Caucasoid and Mongoloid groups form different clusters and Manipur Muslims are distinct from others. The clustering pattern corresponded with the spatial and ethnic affiliations of the populations. Using different classes of DNA loci at the coding and noncoding region will help to better understand the influence of population structure variables on the genetic structure of populations.     

Genetic variation observed at three tetrameric short tandem repeat loci HumTHO1, TPOX,and CSF1PO— in five ethnic population groups of northeastern India

This paper portrays the genetic variation observed at three tetrameric short tandem repeat (STR) loci HumTHO1, TPOX, and CSF1PO in five ethnic population groups from northeastern India. The study also specifies the suitability of use of these markers for forensic testing. The populations studied included three tribal groups (Kuki, Naga and Hmar), one Mongoloid caste group (Meitei), and a religious caste group (Manipuri Muslims). The loci were highly polymorphic in the populations, and all loci met Hardy–Weinberg expectations. No evidence for association of alleles among the loci was detected. The probability of match for the three loci of the most frequent genotype in the five population groups ranged between 2.6 × 10⁻⁴ and 6.6 × 10⁻⁵. The average heterozygosity among the population groups was approximately 70% with the overall extent of gene differentiation among the five groups being high (G_st = 0.046). Genetic affinity among the populations reveal very close association between the Kuki, Hmar, Naga, and Meitei. The Manipuri Muslims, despite being found in the same region, have had no admixture with these populations and maintain a substantial distance with the other groups. The genetic polymorphism data suggest that the studied systems can be used for human identity testing to estimate the frequency of a multiple locus STR DNA profile in population groups of northeastern India. Am. J. Hum. Biol. 13:23–29, 2001. © 2001 Wiley‐Liss, Inc.     

Antiquity, geographic contiguity and genetic affinity among Tibeto-Burman populations of India: a microsatellite study

BACKGROUND: The Tibeto-Burman (TB) populations are one of the four major linguistic population groups of India. They are considered belonging to different stocks and show wide variation in culture and language; however, their genetic relationship, antiquity and migration history among the regional populations has been little investigated. Molecular genetic studies are expected to clearly show the antiquity and genetic diversity of these populations. AIM: This paper seeks to understand the extent and magnitude of genetic affinities and diversities among 14 TB populations (12 Indian and two global groups), investigate the findings based on classical genetic markers and verify the historical accounts of their migration and genetic history based on 12 microsatellite markers. SUBJECTS AND METHODS: The allele frequency data for 12 STR loci of 13 Asian (Tibeto-Burman) populations were obtained from the literature and the Adi Pasi data was obtained by microsatellite typing of their blood samples. The 12 loci studied are D5S818, FGA, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, vWa, TPOX, D18S51. Three different distance measures, two phylogenetic trees and PCA plot have been employed to understand the genetic relationship of the studied populations. RESULTS: Average heterozygosity values range from 68 to 79% and the average G(ST) value is 4.7%. The dendrogram, based on the D(A) distance, shows the clustering of populations based on their diversities and geographical contiguity; the Mizoram and Arunachal Pradesh populations especially cluster together, populations from Sikkim form a separate subcluster and Manipur populations along with the Garo of West Bengal separate out from the other clusters. The Harpending and Ward regression model shows isolated populations positioned below the regression line and others, who experience external gene flow, placed above the line. The results support folklore migration accounts of their possible antiquity with the Tibetan and southern Chinese populations. CONCLUSIONS: Overall, geographic contiguity, punctuated by isolating barriers, is a major influencing factor of genetic affinity among the TB population; contiguous populations within a region show greater genetic relationship than with distant TB populations over a wide geographical area. The results of the microsatellite study also support the history of diverse routes of migration of these populations.     

Structure and genetic relationship of five populations from central India based on 15 autosomal STR loci

Aim: To estimate population parameters based on allele frequencies obtained for 15 polymorphic autosomal STR loci investigated in caste and tribal populations of central India (n?=?419).

Methods: Multiplexed PCR amplifications of the 15 Autosomal STR Loci were performed and amplified products were genotyped using multi-capillary electrophoresis on an ABI 3100 genetic analyser. Parameters of population genetics and forensic interest based on the allele frequencies were calculated. Genetic affinity of the studied populations among themselves and with previously reported populations of India was also analysed using distance-based NJ tree and using PCA plot.

Results: All the 15 STR loci were highly informative and discriminating, with CPD of 0.999 99. Except for Brahmins and Rajput, all other studied populations were in Hardy–Weinberg equilibrium (HWE). The only tribe (Gond) population studied showed significant variation with the other four caste populations (Brahmin, Yadav, Rajput and Muslim) studied and formed a cluster with other previously reported tribal populations of India. Nei’s genetic distance based clustering pattern of the NJ tree and the PCA plot showed the same pattern of genetic relationship, i.e. caste and tribal populations formed a distinct cluster.

Conclusions: With respect to the distribution of alleles at each STR locus, the studied loci were found to be substantially polymorphic in all the studied populations, indicating good informativeness of all 15 STR markers. The population data generated in this study are useful for forensic, anthropological and demographic studies.     

Short tandem repeat (STR) variation in eight village populations of the island of Korcula (Croatia)

The aim of this study was to analyse short tandem repeat (STR) variation using the data on nine loci (D3S1358, vWA, FGA, THO1, TPOX, CSF1PO, D5S818, D13S317, D7S820) in the populations from eight villages on the island of Korcula, Croatia, in order to analyse its genetic and population structure. The analysis of STR data in this study indicated an appreciable degree of genetic homogeneity among the studied village populations on the island, even though a so-called 'east-west dichotomy' and differentiation between the inhabitants of the most recent settlement and the remaining ones was indicated with respect to the loci CSF1PO and TPOX, respectively. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among geographically closely related but reproductively isolated groups remains to be further evaluated, especially in terms of a larger number of studied loci in order to possibly find specific markers useful for resolving genetic patterns of variability at regional levels.     

Maximum likelihood estimates of admixture in northeastern Mexico using 13 short tandem repeat loci

Tetrameric short tandem repeat (STR) polymorphisms are widely used in population genetics, molecular evolution, gene mapping and linkage analysis, paternity tests, forensic analysis, and medical applications. This article provides allelic distributions of the STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, CSF1PO, TPOX, TH01, and D16S539 in 143 Mestizos from Northeastern Mexico, estimates of contributions of genes of European (Spanish), American Indian and African origin in the gene pool of this admixed Mestizo population (using 10 of these loci); and a comparison of the genetic admixture of this population with the previously reported two polymorphic molecular markers, D1S80 and HLA‐DQA1 (n = 103). Genotype distributions were in agreement with Hardy‐Weinberg expectations (HWE) for almost all 13 STR markers. Maximum likelihood estimates of admixture components yield a trihybrid model with Spanish, Amerindian, and African ancestry with the admixture proportions: 54.99% ± 3.44, 39.99% ± 2.57, and 5.02% ± 2.82, respectively. These estimates were not significantly different from those obtained using D1S80 and HLA‐DQA1 loci (59.99% ± 5.94, 36.99% ± 5.04, and 3.02% ± 2.76). In conclusion, Mestizos of Northeastern Mexico showed a similar ancestral contribution independent of the markers used for evolutionary purposes. Further validation of this database supports the use of the 13 STR loci along with D1S80 and HLA‐DQA1 as a battery of efficient DNA forensic markers in Northeastern Mestizo populations of Mexico. Am. J. Hum. Biol. 14:429–439, 2002. © 2002 Wiley‐Liss, Inc.     

成都汉族群体六个短串联重复序列基因频率及其种属特异性研究

目的对成都汉族群体6个短串联重复序列等位基因频率及其种属特异性进行研究,探讨其在法医学中的应用价值。方法用PCR扩增、非变性聚丙烯酰胺凝胶电泳、硝酸银染色技术,对110名成都汉族无血缘关系健康个体的6个短串联重复序列等位基因频率及其种属特异性进行研究。结果D4S2366、D4S2367、D6S474、D6S1281、D2S1396和D20S601在成都汉族群体中等位基因个数分别为7、7、6、7、5、7;观察杂合度分别为0.802、0.708、0.770、0.627、0.542、0.672;个人识别率分别为0.887、0.828、0.849、0.848、0.794、0.865;非父排除率0.602、0.441、0.544、0.325、0.227、0.386。通过种属特异性的评价发现6个短串联重复序列与其他种属间存在较大差异。结论6个短串联重复序列在成都汉族群体中具有较好的遗传多态性及种属特异性,在法医学研究中具有应用价值。     

中国毛南族和仫佬族群体STR的遗传差异性分析

目的研究中国毛南族和仫佬族6个短串联重复序列基因座（STR）：D2S1338、D8S1179、D16S539、D18S51、D19S433、D21S11的遗传多态性以及他们与其他5个少数民族群体的遗传进化关系，丰富这两个群体的遗传学数据库。方法采用聚合酶链反应一短串联重复序列（PCR-STR）技术及ABI3100测序仪，研究中国毛南族（200例）和仫佬族（183例）无关个体6个STR位点的基因频率的分布特点。结果毛南族和仫佬族的6个STR位点分别共检出61和65种等位基因，其频率分布在0．0025，0．3200和0．0027～0．2842之间；共检出216和218种基因型．其频率分布在0．0050～0．1500和0．0055～0．1585之间；两者的平均H〉0．8，PIC〉0．8；累积DP达0．99999998，累积EP达0．9983以上。遗传距离和进化树结果显示：毛南族与仫佬族关系最近，彝族与水族关系最远；7个民族在进化树上被分为2类，彝族自成一类，其余6个民族聚为一类。结论毛南族和仫佬族的6个STR基因座具有高度遗传多态性的特点，实用价值较高，故以上数据可用于人类群体遗传学、法医学个体识别和亲子鉴定等研究；广西7个民族STR的遗传差异性与他们的历史文化和地理分布基本一致。     

Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil

BACKGROUND: The Brazilian population has been the focus of intensive genetic study due to admixture characteristics whereas there are few reports on the variability of VNTR loci in Brazil. PRIMARY OBJECTIVE: The aim of this study was to analyse genetic parameters in sample populations from two geographically distant regions: S?o Luis City, in Maranh?o State and Campinas City, in S?o Paulo State. We investigated if distinct colonization influences could produce detectable differences in genetic background. SUBJECT AND METHODS: DNA samples from peripheral drained blood were obtained from unrelated individuals who underwent paternity testing. Allelic variation in six VNTR loci (D2S44, D4S139, D5S110, D8S358, DI0S28 and D17S79) was evaluated. The results were compared to reference databases available for general Latin-derived European and African-American populations as well as for other Brazilian groups. RESULTS: This study reveals that forensic population parameters did not show differences among regions, although we detected admixture values varying between the south-east and north-east of Brazil. CONCLUSIONS: Differences between the two samples are probably due to different admixture proportions of European- and African-derived alleles in each region: both populations are in Hardy Weinberg equilibrium. In addition, the allelic frequency for all loci, in both populations, can be used as database for forensic purposes.     

Genetic analysis of 15 STR loci from a Xibe population in Liaoning,Northeast of China

Background: In view of their high level of variability, autosomal short tandem repeats (STRs) are very useful as markers in the disciplines of forensic and population genetics studies.

Aim: To investigate the diversity distributions of allelic frequencies of 15 loci from a sample from the Chinese Xibe ethnic group in Liaoning.

Subjects and methods: Fifteen STR loci for 150 unrelated Xibe individuals from Liaoning, China were amplified simultaneously in a fluorescence-based reaction using a 2720 Thermal cycler (ABI). Separation and detection of the amplified product were conducted with the Li-COR 4300 DNA Analyzer.

Results: In total, 117 alleles were observed, with the corresponding allele frequencies ranging from 0.001 to 0.507. D18S51 had the highest polymorphism (PIC?=?0.840) among all 15 STR loci, whereas TPOX had the lowest (PIC?=?0.590). The power of discrimination ranged from 0.801 for TH01 locus to 0.957 for D18S51 locus, whereas the power of exclusion ranged from a minimum 0.316 for TPOX locus to a maximum 0.720 for D21S11 locus. The phylogenetic tree established among worldwide populations showed that the Xibe population is far from other populations.

Conclusion: Databases for the 15 STR loci will be useful for personal identification and paternity tests in the Xibe population and for the establishment of phylogenetic relationships between populations.     

15个短串联重复序列在拉萨市和那曲地区藏族人群的多态性分布

目的 调查15个短串联重复序列(STR)(D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA)在408名西藏拉萨市和那曲地区藏族人群中的基因型与等位基因频率分布. 方法 提取基因组DNA,利用多重PCR和五色荧光(6FAM、VIC、NED、PET、LIZ)自动化检测技术,获得基因分型图,然后进行统计分析,获得15个STR基因座在西藏拉萨市和那曲地区藏族群体中的基因型频率和等位基因频率,并作Hardy-Weinberg平衡检测及两地区基因频率的比较分析. 结果 在拉萨市藏族群体中,15个STR基因座分别检测到11～47种基因型,5～12种等位基因,那曲地区藏族群体中,分别检测到12～58种基因型,6～14种等位基因;15个STR基因座的等位基因频率分布均符合Hardy-Weinberg平衡,拉萨和那曲地区藏族人群等位基因频率分布差异性较小. 结论 该15个STR在西藏拉萨市和那曲地区藏族群体中具有较高的遗传多态性,适合作为藏族群体的遗传标志,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 structure of north-west Africa revealed by STR analysis

We have analysed a large set of autosomal short tandem repeat (STR) loci in several Arabic and Berber-speaking groups from north-west Africa (ie Moroccan Arabs, northern-central and southern Moroccan Berbers, Saharawis, and Mozabites). Two levels of analysis have been devised using two sets of 12STR loci, (D3S1358, vWA, FGA, THO1, TPOX, CSF1PO, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) and 21 (the former set plus D9S926, D11S2010, D13S767, D14S306, D18S848, D2S1328, D4S243, F13A1, and FES/FPS). For each set, data for a number of external reference populations were gathered from the literature. Several methods of analysis based on genetic distances (neighbour-joining trees, principal coordinate analysis, boundary detection), as well as AMOVA, showed that genetic differentiation among NW African populations was very low and devoid of any spatial pattern. When the NW African populations were grouped according to cultural or linguistic differences, the partition was not associated with genetic differentiation. Thus, it is likely that Arabisation was mainly a cultural process. A clear genetic difference was found between NW African populations and Iberians, which underscores the Gilbraltar Straits as a strong barrier to genetic exchange; nonetheless, some degree of gene flow into Southern Iberia may have existed. NW Africans were genetically closer to Iberians and to other Europeans than to African Americans.     

青岛地区D6S477等五个短串联重复序列基因座的遗传多态性研究

目的 了解D6S477等5个基因座在青岛地区汉族群体中基因型分布及等位基因频率等遗传多态性数据，初步探讨其应用价值。方法 收集200名青岛地区汉族无关个体的静脉血，ACD抗凝，采用Chelex法提取DNA，应用聚合酶链反应技术，扩增D6S477、D9S1118、D18S865、D19S400和D20S161基因座的短串联重复序列，聚丙烯酰胺凝胶垂直电泳，银染显色分型。结果 获得了青岛地区汉族群体上述5个基因座的等位基因频率，基因型分布均符合Hardy-Weinberg平衡（P〉0．05）。结论 这5个基因座在青岛地区汉族群体中有较高的非父排除率和个人识别机率，在遗传学研究中有较高的应用价值。     

Genetic parameters of five new European Standard Set STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in the population of eastern Croatia

Aim

To establish allele frequencies and genetic parameters in eastern Croatia population and to compare them with those in other populations. The second aim was to compare the genetic profiles obtained with different forensic kits amplifying the same genetic markers.

Methods

Blood samples of 217 unrelated individuals from eastern Croatia were genotyped using AmpFlSTR NGM kit. Allele distribution and other genetic parameters were determined for 15 short tandem repeat (STR) loci, including the 5 loci recently added to the European Standard Set (ESS) of STR loci (D10S1248, D22S1045, D2S441, D1S1656, and D12S391). Ninety-six samples underwent duplicate analysis using AmpFlSTR Identifiler kit.

Results

Power of discrimination was highest for the two new ESS loci, D1S1656 (0.97254) and D12S391 (0.97339). Comparison of allele frequencies for 5 new ESS loci in our sample with previously published population data showed a significant difference from Maghreb population on D2S441 and from American Caucasian population on D1S1656. Comparison of allele frequencies for standard 10 STR loci with all the neighboring populations’ data showed a significant difference only from Albanian population (on D2S1338, D18S51, and TH01). Discordant genotypes were observed in 5 (5.2%) samples at a single locus when amplified with both AmpFlSTR NGM and AmpFlSTR Identifiler kit.

Conclusion

New ESS STR loci are highly polymorphic and short, and therefore very useful for the analysis of challenging forensic samples. DNA samples purposed for establishing databases should be routinely amplified in duplicate.To facilitate DNA profiles comparison between databases of different European countries, The European Network of Forensic Science Institutes (ENFSI) and European DNA Profiling Group (EDNAP) have recently added five new loci (D10S1248, D22S1045, D2S441, D1S1656, and D12S391) to the European Standard Set of short tandem repeat (STR) loci (1,2). These new loci were included into the AmpFlSTR NGM PCR amplification kit (NGM kit; Life Technologies, Foster City, CA, USA).The Laboratory for DNA Analysis in Osijek was established to participate in the identification of missing persons after the war in Croatia (1991-1995). In collaboration with the laboratories in Zagreb and Split, a database of genotypes of missing persons’ relatives was created including approximately 5000 persons. The greatest part of the included genetic information is based on the 15 loci incorporated in AmpFlSTR Identifiler PCR amplification kit (Identifiler kit; Life Technologies, Foster City, CA, USA). Skeletal remains are identified by comparing the genotype of each piece of skeletal remains with the genotypes in the missing persons’ relatives database. Such non-targeted matching in a database containing several thousands genotypes considerably decreases the reliability of the established match. Still, the majority of identified skeletal remains were matched in such a way, as genotypes of the missing persons from the father-mother-child trio. Even within so large a database, hundreds of genotypes of skeletal remains still do not have a match, due to a lack of adequate relatives. Matching a profile created from a piece of skeletal remains across the whole database returns many adventitious matches, partly because some genotyped loci have low discrimination power (2). An especially large number of adventitious matches is present if the genetic profile from skeletal remains is partial.In a targeted approach to DNA typing, loci on the Y-chromosome and mtDNA can be amplified, but at a database level more useful are the loci on somatic chromosomes. Evidential value of a genetic match based on STR typing relies on high polymorphism and a large number of STR loci. In order to obtain as much as possible genetic information, we used the NGM kit. Our aim was to increase the number of genetic markers in order to achieve higher evidential value of STR typing and to amplify short STR loci, often better preserved in degraded samples. Especially valuable are three new “mini” STR loci (D10S1248, D22S1045, and D2S441), engineered to produce short amplicons (up to 150 bp) that are more successfully obtained from the most degraded samples. The remaining two new loci (D1S1656 and D12S391) are also relatively short and highly polymorphic (3-7). Besides obtaining information on the 5 new loci, the NGM kit includes improved chemistry that maximizes performance on challenging samples.In the new European Standard Set (ESS) of STR loci, allele distribution and genetic parameters still have to be determined. A population study on the new loci has been performed for several countries (including Belgium, Germany, Hungary, Maghreb countries, Poland, and USA) (7-12). However, there has been no such study either for Croatian or its neighboring populations. Therefore, we carried out a population study on a sample from eastern Croatia, which might be the most appropriate regional sample, because this part of the country sustained the greatest human losses during the war. Since the greatest part of our relatives’ database is based on the Identifiler kit, which shares 10 loci with NGM kit (D3S1358, vWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, and FGA), we compared the genetic profiles obtained with both of these kits amplifying the same genetic markers. We also compared the obtained genetic parameters for 15 STR loci with the available population data from the neighboring countries.     

Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil

Background: The Brazilian population has been the focus of intensive genetic study due to admixture characteristics whereas there are few reports on the variability of VNTR loci in Brazil.

Primary objective: The aim of this study was to analyse genetic parameters in sample populations from two geographically distant regions: São Luís City, in Maranhão State and Campinas City, in São Paulo State. We investigated if distinct colonization influences could produce detectable differences in genetic background.

Subject and methods: DNA samples from peripheral drained blood were obtained from unrelated individuals who underwent paternity testing. Allelic variation in six VNTR loci (D2S44, D4S139, D5S110, D8S358, D10S28 and D17S79) was evaluated. The results were compared to reference databases available for general Latin-derived European and African–American populations as well as for other Brazilian groups.

Results: This study reveals that forensic population parameters did not show differences among regions, although we detected admixture values varying between the south-east and north-east of Brazil.

Conclusions: Differences between the two samples are probably due to different admixture proportions of European- and African-derived alleles in each region; both populations are in Hardy–Weinberg equilibrium. In addition, the allelic frequency for all loci, in both populations, can be used as database for forensic purposes.     

D16S539、D7S820和D13S317位点在新疆哈萨克族中的遗传多态性

目的 了解新疆哈萨克族人群D16S539、D7S820和D13S317 3个STR位点的遗传多态性。方法 应用多重PCR扩增，6％变性聚丙烯酰胺凝胶电泳结合银染技术对102名无关个体及8个家系42人的哈萨克族人群进行调查，并与其他人群进行了比较。结果 3个位点分别检测出8、7、8个等位片段，多态性分布符合Hardy-Wdinberg平衡定律，期望杂合度为：0.9439、0.9356、0.9304，累积多态信息量为0.9905、个体识别为0.9998、非父排除率为0.9572，与其他人群比较差异有显著性（P＜0.05），在家系调查中无一突变发现，均按孟德尔遗传规律传递。结论 3个STR位点的综合检验在法医学应用及群体遗传学中显示了较高的价值。     

Genetic parameters and allele frequencies of five new European Standard Set STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in the population of Romania

Aim

To establish allele frequencies and genetic parameters for 5 new European Standard Set short tandem repeat (STR) loci in the population of Romania and to compare them with those in other populations.

Methods

DNA was isolated using QIAamp 96 DNA Swab BioRobot Kit and Chelex 100 methods. Polymerase chain reaction amplification was done using Investigator ESSplexPlus Kit (D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D12S391, D16S539, D18S51, D19S433, D21S11, D22S1045, FGA, TH01, and vWA). For DNA typing, Applied Biosystems 3500/3500xL Genetic Analyzer was used. Statistical analysis was done using Powerstats, GDA, and Arlequin software.

Results

Power of discrimination and polymorphism information content was highest for two new ESS loci, D1S1656 and D12S391. Comparison of allele frequencies for 5 new ESS loci in Romanian population with previously published population data showed significant differences for all compared populations, with the exception of Hungary. Geographically more distant populations, such as Spain, Sweden, United Kingdom, Germany, and Portugal differed more than closer populations.

Conclusion

New ESS STR loci are very useful for the analysis of forensic samples (persons or traces) due to their characteristics (shortness and high polymorphism). In comparisons with other common STR markers, they have a higher power of discrimination and also higher polymorphism information content, and could be used in any national DNA database.The establishment of standard sets (or common sets) of short tandem repeat (STR) markers which had first been a necessity for the forensic scientific community, as a result of globalization became a necessity for the worldwide law enforcement agencies. STR markers standard sets facilitate communication and judicial transmission of the forensic DNA typing results between different forensic groups or countries (1).Although several STR sets have been proposed (2), three of them are most frequently used: Interpol Standard Set of Loci – ISS (FGA, TH01, VWA, D3S1358, D8S1179, D18S51, D21S11), US Core Loci – CODIS (CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11), and European Standard Set of Loci – ESS (D3S1358, VWA, D8S1179, D21S11, D18S51, TH01, FGA, D1S1656, D2S441, D10S1248, D12S391, D22S1045).The five new European Standard Set STR loci studied in Romanian population are an upgrade of an earlier version of ESS consisiting of 7 STRs (3), adopted by the European Council in 2001. The DNA Working Group of the European Network of Forensic Science Institutes (ENFSI) reviewed the usefulness of the ESS in light of the increased exchange of DNA analysis results in 2009 and recommended the expansion with 5 new ones (4).Romania adopted the new 5 ESS loci and started to use them at the national level at the beginning of 2012 as part of the Investigator ESSplex Plus Kit, which replaced the AmpFlSTR Identifiler PCR Amplification Kit used before for Romanian National DNA Database supplying. As a consequence, and due to the lack of any study involving D10S1248, D22S1045, D2S441, D1S1656, and D12S391 loci in the Romanian population, allele distribution and genetic parameters of these loci have to be determined. The aim of this study was to establish allele frequencies and genetic parameters for 5 new ESS loci in population of Romania and to compare them with those in other populations .     

九个非DNA联合索引系统短串联重复序列基因座在河北汉族群体的遗传学调查及在亲子鉴定中的应用

目的 调查9个非DNA联合索引系统(DNA combined index system,CODIS)的短串联重复序列(short tandem repeat,STR)基因座在河北汉族人群的等位基因分布,评估其在亲子鉴定中的应用价值.方法 应用 STRtyper 10G试剂盒调查147名河北汉族健康无关个体基因分型,计算...     

DNA interpopulational variation in Siberian indigenous populations: The mountain Altai

Using mtDNA and classical markers, previous studies have found that the Altai are genetically divergent from the rest of Siberia. This study uses five variable number tandem repeat (VNTR) loci to examine the relationship of the Altai to other indigenous Siberian populations. Frequencies of VNTR fragments have been obtained from the DNA of 95 individuals living in the Altai village of Mendur-Sokkon. A Kolmogorov-Smirnov test shows that the Altai are significantly different from the Evenki village of Surinda at loci D11S129 and D20S15. In addition, the Altai are also statistically different from the Evenki village of Poligus at locus D11S129. The test reveals no differences between the Ket village of Sulamai and Mendur-Sokkon. The G_ST value obtained for Siberia is significant and is almost equal to that found for the G_ST of American ethnic groups. The significance of the G_ST values was verified through random resampling of the data. The G_ST value is an effect of the relative isolation of the Evenki as well as gene flow into the Kets and Altai; this is shown in a plot of r_n versus mean heterozygosity. Although genetic differentiation between the Siberian groups is significant, an R matrix analysis, which uses American and Siberian ethnic groups, shows that the Siberians form a tight cluster. When the R matrix, G_ST, and the Kolmogorov-Smirnov results are combined, the Altai appear to be genetically different among Siberian populations, yet they are not as genetically divergent as previous studies have shown. © 1996 Wiley-Liss, Inc.