Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups

Bini, Carla; Riccardi, Laura; Ceccardi, Stefania; Carano, Francesco; Sarno, Stefania; Luiselli, Donata; Pelotti, Susi

doi:10.1016/j.fsigen.2014.11.008

Cited by 23 publications

(20 citation statements)

References 22 publications

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“…Both DXS10135 and DXS8378 belong to the LG1. As expected, results for allele variability are very similar to the already published data for other European populations [13,16,17,20,24]. Haplotype frequencies, estimated directly from the pooled population data for each LG, are presented in Supplementary material 2 Table S2.…”

Section: Alleles and Haplotypes In Forensic Contextsupporting

confidence: 84%

“…For testing of genetic homogeneity among the five Croatian regions, analysis of molecular variance (AMOVA) and pairwise genetic distances (Fst) were calculated based on both allele frequencies (male and female samples) and full haplotypes of male samples. Pairwise genetic distances were also calculated for inter-population comparison of haplotype frequencies between pooled Croatian population samples and 13 neighboring European populations: Slovenia, Italy, Hungary, Albania, Czechia, Germany, Greece, West Mediterranean, Lithuania, Belarus, Portugal, Denmark and Sweden [13][14][15][16][17][18][19][20][21][22][23][24]. All aforementioned computations were performed using Arlequin software v3.5.2.2 [25], while significance level for all statistical tests was set to 0.05 and corrected for multiple comparisons using Bonferroni adjustment.…”

Section: Discussionmentioning

confidence: 99%

“…LG1 is also the most polymorphic in other worldwide populations typed by Investigator® Argus X-12 Kit [13,14,16,17,24]. Of all possible haplotypes for each linkage group, 320 (4.4%), 189 (11.4%), 201 (8.9%) and 269 (3.9%) were observed in LG1, LG2, LG3 and LG4, respectively.…”

Section: Alleles and Haplotypes In Forensic Contextmentioning

confidence: 96%

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Expanded Croatian 12 X-STR loci database with an overview of anomalous profiles

Mršić

Ozretić

Crnjac

et al. 2018

Forensic Science International: Genetics

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In order to implement X-chromosome short tandem repeat (X-STR) typing into routine forensic practice, reference database of a given population should be established. Therefore we extended already published data with additional 397 blood samples from unrelated Croatian citizens, and analyzed the total of 995 samples (549 male and 446 female) typed by Investigator Argus X-12 Kit. To test genetic homogeneity of consecutively processed five historic-cultural regions covering the entire national territory, we calculated pairwise Fst genetic distances between regions based on allele and full haplotype frequencies. Since the comparison did not yield any statistically significant difference, we integrated STR profile information from all regions and used the whole data set to calculate forensic parameters. The most informative marker is DXS10135 (polymorphism information content (PIC = 0.929) and the most informative linkage group (LG) is LG1 (PIC = 0.996). We confirmed linkage disequilibrium (LD) for seven marker pairs belonging to LG2, LG3 and LG4. By including LD information, we calculated cumulative power of discrimination that amounted to 0.999999999997 in females and 0.999999005 in males. We also compared Croatia with 13 European populations based on haplotype frequencies and detected no statistically significant Fst values after Bonferroni correction in any LG. Multi-dimensional scaling plot revealed tight grouping of four Croatian regions amongst populations of southern, central and northern Europe, with the exception of northern Croatia. In this study we gave the first extensive overview of aberrant profiles encountered during Investigator Argus X-12 typing. We found ten profiles consistent with single locus duplication followed by tetranucleotide tract length polymorphism. Locus DXS10079 is by far the most frequently affected one, presumably mutated in eight samples. We also found four profiles consistent with X-chromosome aneuploidy (three profiles with XXX pattern and one profile with XXY pattern). In conclusion, we established integral forensic Croatian X-chromosome database, proved forensic pertinence of Investigator Argus X-12 Kit for the entire Croatian population and identified locus DXS10079 as a potential duplication hotspot.

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Section: Alleles and Haplotypes In Forensic Contextsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 99%

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Expanded Croatian 12 X-STR loci database with an overview of anomalous profiles

Mršić

Ozretić

Crnjac

et al. 2018

Forensic Science International: Genetics

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“…The presence of pairwise linkage disequilibrium (LD) between loci was tested by the exact test using a Markov chain for male, and by likelihood ratio test using the Expectation-Maximization algorithm for female samples. Pair-wise genetic distances (F ST ) were calculated for inter-population comparison of haplotype frequencies between northern Croatia and Italian (Bini et al ., 2015), western Mediterranean (Ferragut et al ., 2015), Czech (Zidkova et al ., 2014), German (Edelmann et al ., 2012), Hungarian (Horvath et al ., 2012), Swedish (Tillmar, 2012), Danish, Somalian, Greenlandic (Tomas et al ., 2012), Chinese and Japanese populations (Uchigasaki et al ., 2013). Comparison with a population of Central Croatia was based on allele frequencies of DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423 loci (Grskovic et al ., 2013), while comparison with Bosnian-Herzegovinian population was based on DXS8378, DXS7132, HPRTB, and DXS7423 loci (Diegoli et al ., 2011).…”

Section: Methodsmentioning

confidence: 99%

Investigator Argus X-12 study on the population of northern Croatia

et al. 2016

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X chromosome STR typing has emerged recently as a powerful tool, complementary to autosomal STR typing, in solving complex forensic and missing person cases. Investigator® Argus X-12 is a commercial product that allows co-amplification of 12 X chromosomal markers belonging to four linkage groups (LGs). In this study, we analyzed by capillary electrophoresis blood samples from 100 females and 102 males from a population of northern Croatia. Statistical analysis included calculation of allele and haplotype frequencies, as well as forensic parameters. The most informative marker for the northern Croatia population was DXS10135 with PIC=0.9211 and a total of 27 alleles. The least polymorphic marker was DXS8378 with 6 alleles. The proportion of observed haplotypes from the number of possible haplotypes varied from 2.74–8.57% across all LGs, with LG1 being the most informative. Of the 11 tested world populations compared to the population of northern Croatia, significant differences in genetic distance (FST) were found for Greenlandic and all non-European populations. We found that all tested markers are in HWE and can thus be used for match probability calculation. Because of high combined power of discrimination in both men and women, Investigator® Argus X-12 is applicable for the northern Croatia population in routine forensic casework.

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“…Isso significa que estes marcadores possuem um poder de discriminação maior que os autossômi-cos como, por exemplo, em casos em que o suposto pai e criança do gênero sexual feminino não possuem nenhum vínculo genético, proporcionando, assim, a exclusão de paternidade. Em virtude disso, mesmo com a análise de poucos X-STRs, o poder estatístico obtido pode ser suficiente (BINI et al, 2015;SZIBOR et al, 2003).…”

Section: Características Do Cromossomo Xunclassified

Aplicabilidade do cromossomo X no DNA forense

Leite

Machado

Barcelos

2017

cmbio

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ResumoIntrodução: os casos de identificação humana com a ausência do pai se tornam de difícil solução com marcadores moleculares autossômicos, do cromossomo Y e situados no DNA mitocondrial. Objetivo: contribuir com a solução destes casos utilizando o polimorfismo genético de marcadores moleculares situados no cromossomo X. Metodologia: buscas foram realizadas em bases de dados nacionais e internacionais até novembro de 2015. Foram selecionados artigos relacionados com o uso de marcadores moleculares e com a solução de casos de paternidade com e sem a ausência do suposto pai. Discussão: os achados na literatura mostram que casos de paternidade com a ausência do pai podem ser solucionados com o polimorfismo do cromossomo X (repetições de tetranucleotídeos), inclusive com menos marcadores em relação às demais classes de marcadores, pois o padrão de herança mostrase diferente entre os pais. Conclusão: a principal aplicabilidade do polimorfismo do cromossomo X situa-se nos casos complexos de identificação humana que não poderiam ser solucionados devido à ausência do material biológico de parentes. Palavras-chave: Cromossomo X. Genética Forense. Identificação Humana. Polimorfismo. INTRODUÇÃOAllec Jeffreys, em 1985, analisando a molécula de DNA (ácido desoxirribonucléico) vislumbrou a perspectiva de esta molécula ser utilizada como um método de identificação humana, solucionando um caso de imigração na Inglaterra (JEFFREYS; BROOKFIELD; SEMEONOFF, 1985). O caso envolveu uma família africana, que residia no Reino Unido e teve um dos filhos proibido de ingressar no país pelas autoridades locais. As ciências forenses recebeu a atenção do mundo científico quando o pesquisador Allec Jeffreys analisando a molécula de DNA comprovou o vínculo entre mãe e filho contestado (JEFFREYS, 2013).Aliado a esta nova metodologia, em 1987, o exame de DNA foi aceito pela primeira vez pela Corte de Justiça do Reino Unido como prova criminal, levando a condenação de um indivíduo que estuprou e assassinou duas jovens nos anos de 1983 e 1986. Neste caso, foram coletadas amostras de sangue de todos os homens adultos que residiam na vila Narborough e comparadas com o sêmen coletado das vítimas. Foi comprovado através do exame de DNA que o perfil genético de Colin Pitchfork era idênti-co ao do sêmen encontrado nas vítimas (JOBLING, 2013).Essa metodologia molecular pode ser considerada uma técnica confiável utilizada para diferenciação de indivíduos. Este método também pode ser utilizado na área forense especialmente em análises de locais de crime, onde podem ser coletados materiais biológicos de diferentes fontes; muitas vezes em quantidade escassa, degradada, contaminada, entre outros (ZIETKIEWICZ et al., 2012).Em um local de crime, vestígios que contenham uma mínima quantidade de material biológico, podem fornecer informações valiosas para solucionar casos através de um exame de DNA. Por isso, esta técnica revolucionou as investigações criminais, com a possibilidade de acusar e, principalmente, inocentar pessoas (FRUMKIN et al., 2010;GODINHO, ...

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Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups

Cited by 23 publications

References 22 publications

Expanded Croatian 12 X-STR loci database with an overview of anomalous profiles

Expanded Croatian 12 X-STR loci database with an overview of anomalous profiles

Investigator Argus X-12 study on the population of northern Croatia

Aplicabilidade do cromossomo X no DNA forense

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