//Forensic Science International: Genetics Supplement Series

Forensic Science International: Genetics Supplement Series

Publisher:
Impact Factor:
Years in Print:
Journal Website:

Articles of Interest

Best practice recommendations for the establishment of a national DNA identification program for missing persons: a global perspective

Journal: Forensic Science International: Genetics Supplement Series | Year: 201

Abstract:

I was awarded a 2015 Churchill Fellowship to visit international laboratories which have specialisation in the DNA identification of unidentified human remains (UHR), applied new technologies to DNA identification casework including the massively parallel sequencing (MPS) of mitochondrial DNA (mtDNA) and forensic DNA phenotyping markers, and established successful DNA-led identification programs for missing persons (MP) casework or disaster victim identification. The goal of the Fellowship was to improve the DNA profiling outcomes for the 500+ cases of UHR in Australia, explore new technologies or DNA markers which could aid the identification effort in the absence of other investigative leads, and devise recommendations for the establishment of a DNA identification program for the 2000+ long-term MP in Australia. Despite DNA being used worldwide to successfully identify large numbers of MP resulting from armed conflicts, human rights abuses and natural or man-made disasters, the cost, labour and success rate of using DNA for routinely identifying compromised UHR has historically been prohibitive for many countries, resulting in current backlogs of identification casework. The introduction of a nationally coordinated DNA testing program, and adoption of DNA technological advancements, will facilitate the effective and efficient identification of a country’s unknown and missing citizens thus bringing closure to potentially large numbers of missing person and criminal cold cases. I will translate key Fellowship findings into practical recommendations for the establishment of a national DNA identification program based on international best practice that will be applicable for any country considering implementing a DNA-led MP program.

Peoples: | Places: | Topics: | DNA Type: -

Genetic characterization of four Brazilian states with 25 Yfiler®Plus markers

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

The Y-STRs have high mutation rates, being useful to discriminate unrelated males. They are widely used in paternity and forensic investigations to study the recent history and migration movements of populations. Recently, the YfilerPlus was released to increase discrimination inside populations, by adding 9 Y-STRs to the previous Yfiler version. The genetic composition of Brazil is known to vary through 5 geopolitical regions: South, Southeast, North, Northeast and Central-west. Therefore, for this study, samples from Maranhão, Espírito Santo, São Paulo and Rio Grande do Sul were characterized for the Y-STR markers present in YfilerPlus kit, to evaluate if diversity increases with the enlargement of the Yfiler set, and if significant differences exists among populations. Genetic differentiation analysis did not reveal statistically significant differences in the YfilerPlus haplotype composition of the studied samples. High diversities were observed in all samples for both Yfiler and YfilerPlus marker sets. Inside populations, 20 haplotypes were shared by two individuals for the Yfiler-STRs. This number decreases to 14 when using the 25 Y-STRs from the YfilerPlus. The YfilerPlus demonstrated an increased discrimination power in comparison to the Yfiler kit, being suitable for forensic applications in the studied Brazilian populations, for which data were not yet available.

Peoples: Brazilians | Places: Brazil, Espírito Santo, Maranhão, Rio Grande do Sul, and São Paulo | Topics: YfilerPlus | DNA Type: Y-DNA and Y-STR

An unexpected case in the prehistory of the Iberian Peninsula: Biogeographical origin analysis through mitochondrial DNA

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

We have determined the mitochondrial haplotype (A73G T16172C C16223T G16257A C16261T) on a Bronze Age Individual from an archaeological site located in Alaejos (Valladolid, Central Spain). This haplotype is typical from N9a2′4′5 or N9a2′4′5′11 mitochondrial haplogroups, which are nowadays widely distributed in the Asian region. Here, we compare and discuss the frequency of this haplogroup in nowadays and in ancient human populations, especially in contemporaries of the individual under study.

The biogeographical analysis has been carried out by amplifying two overlapping fragments of the Hipervariable Region I (HRVI) and other two of the Hipervariable Region II (HRVII) of the mitochondrial DNA (mtDNA). Moreover the mtDNA haplogroup was assigned by the analysis of mtSNPs in coding regions. Furthermore, the experimental process was performed by duplicate to obtain a reliable haplogroup. Along the all process, ancient DNA authenticity criteria were observed.

Peoples: Bronze Age Europeans | Places: Spain | Topics: | DNA Type: mtDNA

MTDNA control region analysis of North Brazilian population

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

South America’s demographic complexity has been historically influenced by population interactions such as the European migration and African slavery trade, besides Native Americans groups previously settled in the territory. In Brazil colonization occurred alongside different historical events at the beginning of the 16th century which intensely contributed to the genetic admixture. This study targets to enlarge on the databases with matrilineal lineages of Brazilian populations. We analyzed the mtDNA control region of blood spots from 116 individuals belonging to the North region of the country. All samples were processed by direct amplification and sequenced with fluorescent dye terminators kit by capillary electrophoresis. The haplogroups were assigned using the EMPOP online platform. Our data revealed higher rates for the Native American ancestry (57.8%), followed by African (36.2%) and European (6.0%) proportions. Considering the lack of mitochondrial lineages data further studies should be conducted in order to fully elucidate anthropological and population genetic pattern across the country.

Peoples: Brazilains and Native Americans | Places: Brazil and South America | Topics: | DNA Type: mtDNA

Linking the Y-chromosomal haplotype from a high medieval (1160–1421) skeleton from a Podlazice excavation site with living descendants

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

DNA analysis of skeletal remains from a high medieval Podlazice burial site (1160–1421) yielded data for lineage markers (mtDNA, Y-chromosome). We linked one of the retrieved Y-haplotypes with a group of individuals bearing the surname Dusanek (Duschanek). One of the individuals even confirmed that his ancestors lived close to the Podlazice cloister, which they moved from after the Thirty Years' War (1618–1648) to another area of Bohemia. The differences in haplotypes (genetic distances) between the skeleton and the closest matches are 15 and 16 Y-STRs of 17 tested using the Y-filer kit (ThermoFisher Scientific). These findings are consistent with our theory that the skeletal remains belong to an individual belonging to the same family lineage as the tested individuals.

Peoples: Bohemians | Places: Podlazice cloister | Topics: Bioarchaeology, Bone, Forensics, Genetics of cemeteries, Inheritance, Surname, and Y chromosome haplotype | DNA Type: Y-DNA and Y-STR

The immigrant population from Mozambique in Lisbon: Updated mitochondrial DNA portrait

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

Since the end of the 1970s Portugal had a role in the migratory movements, becoming a destiny for immigrants of a wide range of nationalities, especially from the African continent. According to statistical data, until the end of 2015, there were approximately 3000 Mozambican immigrants living in Portugal and from those, more than a half living in Lisbon metropolitan region.

Mitochondrial DNA identical sequences are shared by matrilineal inheritance. Along with the lack of recombination, it enables to trace the ancestral origin of each population and its evolutionary history. However, not only in evolutionary and population studies but also in forensic genetics, mtDNA is an important tool.

The aim of our study is the genetic characterization of Mozambican immigrants living in Lisbon in order to emphasize their genetic variability contribution to Lisbon population.

We studied blood samples from 83 Mozambican immigrants living in Lisbon. A wide range of haplotypes belonging to L, H, U, K, R, J, T and M haplogroups were founded. The highest incidence was observed for the L haplogroup (81%), often pointed as characteristic Sub-Saharan, region where Mozambique is framed. The great genetic heterogeneity for Mozambican immigrant population was highlighted in our results. Phylogenetic analysis established that the studied population is the immigrant community genetically closer to the Portuguese population.

Peoples: Mozambicans | Places: Lisbon | Topics: | DNA Type: mtDNA

Forensic evaluation of 27 y-str haplotypes in a population sample from Nigeria

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

Nigeria is a country located in Gulf of Guinea, in West Africa, facing the Atlantic Ocean. It is one of the most populous country in the world. There are more than 500 ethnic groups inhabiting the territory, representing a high diversity of languages and cultures. In this study, we collected 142 samples from the three largest ethnic groups in Nigeria: Hausa, Igbo and Yoruba. These samples were typed for the 27 Y-STR loci included in the Yfiler® Plus kit. A total of 140 different haplotypes were found, with two haplotypes shared by 2 individuals. The haplotype diversity was 0.9998 (±0.0009), slightly higher than that obtained with the 17 Y-STRs from the Yfiler kit (0.9992 ± 0.0010). The Yfiler kit also showed an increased number of shared haplotypes, with 4 being shared by 2 individuals and one by 3. The average gene diversity over loci was lower in Nigeria than in the U.S. population groups reported in Yfiler® Plus kit User Guide. The DYS391, DYS390, DYS438, DYS392, DYS437 and DYS533 showed low diversity values (GD ≤ 0.35). Comparisons between Nigeria and five populations in East Africa, the only African data available for the Yfiler® Plus markers, revealed significant differences among all populations (p-values ≪0.00005). The smallest FST was found with Kenya (FST = 0.025), followed by Ethiopia (FST = 0.105). As expected, distances with Djibouti, Eritrea and Somalia were higher that 20%, since our sample are from Bantu speakers, not represented in these population sample.

Peoples: Hausa, Igbo, Nigerians, and Yorubans | Places: Nigeria | Topics: Nigeria and Y-STR | DNA Type: Y-DNA

mtDNAmap: Geographic representation of mtDNA Haplogroups

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

Mitochondrial DNA is inherited maternally and is thought to be evolved stepwise from one population to another population in the history of mankind. Haplogroup for any mtDNA provides us a solution for the logical classification of the mitochondrial DNA based on established phylogenetic principles. There is a huge amount of scattered mtDNA sequence data from different global and regional populations. It demands a professional platform for representation of data to draw meaningful and simple-to-understand information about mtDNA distribution. Here, mtDNAmap provides geographical representation of mtDNA haplogroups’ frequencies in various populations all over the world according to their present day reported locations. It is a haplogroup frequency database of different populations calculated from the published data using their reported valid mtDNA sequences. Publicly available MtDNA sequences, processed through mtDNAprofiler for SNP determinations based on revised Cambridge Reference Sequence and followed by Haplogrep 2.0 for the determination of the haplogroups on the basis of most updated Phylotree version-17, are graphically represented on the dynamic map in the form of frequencies. mtDNAmap provides the open access to the whole or part of published high-quality curated data. The tool is not only useful for researchers from forensic and anthropology backgrounds but also in general public.

Peoples: - | Places: - | Topics: Phylogeography | DNA Type: mtDNA

Y-chromosome haplogrouping for Asians using Y-SNP target sequencing

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

Y-chromosomal haplogroups are sets of ancestrally related paternal lineages. We prepared a next generation sequencing (NGS)-based target sequencing panel of 85 Y-SNPs to determine Y-haplogroup of Asian populations. The Y-SNP panel was applied to several Asian ethnic groups: Korean, Chinese (Han and Dai), Japanese, Vietnamese, and Pakistani. Target capture was done using the SureSelect XT Custom capture kit (Agilent) and NGS was performed using the HiSeq 2500 (Illumina). This study could provide a fine Y-haplogroup tree for Asian groups. The Y-SNP panel was determined to be highly exact and reproducible and can be useful for the rapid determination of Asian Y-haplogroups. In particular, since there is a significant difference in the Y-haplogroup distribution among the Northeast Asian populations, applying the Y-SNP panel will help predict the ethnics among the Northeast Asian countries.

Peoples: Asians, Chinese, Dai, Han, Japanese, Pakistani, and Vietnamese | Places: Asia | Topics: Y-chromosome | DNA Type: Y-DNA and Y-SNP

Paraguay: unveiling migration patterns with ancestry genetic markers

Journal: Forensic Science International: Genetics Supplement Series | Year: 2017

Abstract:

Before the arrival of Spanish settlers, the East region of Paraguay, was inhabited by Guarani people. After the Paraguayan war in 1870, which ended in loss of a high percentage of the male population, the migration to the country was encouraged. Immigration data indicate a high input of Eurasians to the territory. Also, since 1960s, a large number of Brazilians and Argentineans arrived in Paraguay. Samples from the eastern provinces of Paraguay were sequenced for the mtDNA control region and 88% presented native American haplogroups. A preliminary study on the same samples using AIMs indicates a high autosomal contribution from Europe and native America. The comparison of both type of markers showed that the European ancestry for autosomes is higher than expected when averaging mtDNA and the Y chromosome. This result supports recent admixture between Paraguayans and other populations probably already admixed, where the men contributed with high European ancestry.

Peoples: Guarani | Places: Paraguay | Topics: | DNA Type: Autosomal DNA and mtDNA

1 2 3 Next › Last »
2005-01-01T00:00:00+00:00 January 1st, 2005|