The genetic legacy of the Transatlantic Slave Trade in the island of New Providence

The Bahamian archipelago has been influenced by a wide array of settlers (Lucayans, Eleutherian Adventurers, British Loyalists, Creoles from the United States and African slaves) throughout its short but dynamic history. Nevertheless, the Bahamas remains poorly characterized genetically and little is known about each group's contribution to the island chain. In the current study, the population of New Providence was analyzed based on 15 autosomal STR loci routinely employed in forensic DNA fingerprinting applications. A comparison of this collection with African groups reveals similar genetic profiles to West African populations from Equatorial Guinea and Angola, possibly resulting from the importation of slaves from West African ports during the Transatlantic Slave Trade. Although the New Providence collection exhibits strong genetic affinities to the two US African American reference populations, the detection of unique alleles among them may necessitate the utilization of population-specific databases in forensic cases especially when the STR profiles include these specific variants.     

The forensic DNA implications of genetic differentiation between endogamous communities

In many indigenous minority populations, and among migrants from Asian and African populations now resident in western Europe, North America and Australia, there is a strong tradition of endogamy and a preference for consanguineous unions. These marriage practices can result in F(ST) values greatly in excess of the maximum value (0.01) currently recommended for forensic DNA purposes under guidelines established by the National Research Council (NRC) of the USA. To examine the possible extent of deviation from this accepted norm, three co-resident Pakistani communities were studied using 10 autosomal dinucleotide markers and six tetranucleotide markers on the Y-chromosome. The mean population subdivision coefficient (FST) value was 0.13 for the autosomal loci, and Y-chromosome loci exhibited even stronger differentiation with unique alleles identified in all three communities. The data indicate that even when sub-populations are virtually indistinguishable in terms of anthropology, geography, ethnicity or culture, they may still exhibit major genetic differentiation. Where significant population stratification is known to exist, more detailed genetic databases should be developed for forensic DNA purposes, based on reference data from each of the appropriate sub-populations and not on random or combined samples.     

Forensic Analysis of mtDNA Haplotypes from Two Rural Communities in Haiti Reflects Their Population History

Abstract: Very little genetic data exist on Haitians, an estimated 1.2 million of whom, not including illegal immigrants, reside in the United States. The absence of genetic data on a population of this size reduces the discriminatory power of criminal and missing‐person DNA databases in the United States and Caribbean. We present a forensic population study that provides the first genetic data set for Haiti. This study uses hypervariable segment one (HVS‐1) mitochondrial DNA (mtDNA) nucleotide sequences from 291 subjects primarily from rural areas of northern and southern Haiti, where admixture would be minimal. Our results showed that the African maternal genetic component of Haitians had slightly higher West‐Central African admixture than African‐Americans and Dominicans, but considerably less than Afro‐Brazilians. These results lay the foundation for further forensic genetics studies in the Haitian population and serve as a model for forensic mtDNA identification of individuals in other isolated or rural communities.     

Population genetics of Y-chromosomal microsatellites in Baltic males

Y-chromosomal microsatellites (STRs) are potentially useful in forensic practice but, in contrast to autosomal systems, large and diverse population databases are required in order to facilitate the statistical evaluation of donor-stain matches. Since appropriate data from the Baltic region have so far been lacking, blood samples were obtained from 430 males originating from one of the three Baltic states and these samples were genotyped using a previously described "extended core set" of nine Y-STR marker systems. Allele frequency distributions and discrimination indices were calculated, and the three populations were tested for genetic differences by means of analysis of molecular variance (AMOVA). A larger genetic difference became apparent between Estonian and both Lithuanian and Latvian males than between the latter two, non-Finno-Ugric speaking populations. The haplotype data reported here have been included into the Y-STR database maintained at the Institute of Legal Medicine, Humboldt University, Berlin.     

Genetic variation of 13 STR loci in the four endogamous tribal populations of Eastern India

We have analysed 13 autosomal STR loci in four endogamous tribal populations from two eastern states (Orissa and Nagaland) of India. The Gadaba, Kuvi Khond and Lotha Naga populations have not been analysed for microsatellite genetic variation previously. The allele frequencies for all loci are within the range observed in the geographical region and racial background, though some alleles showed greater variation. Departures from the Hardy-Weinberg equilibrium were tested by three methods and two loci (THO1 and TPOX) showed significant departures for all measures in Gadaba and Lotha Naga populations. The exclusion probability and discrimination probability were high for all analysed loci in all populations. There is no evidence for association of alleles among the STR loci studied. This allele frequency information will be useful for forensic, paternity and population genetic studies.     

DNA typing in populations of mule deer for forensic use in the Province of Alberta

The present study involves the development of forensic DNA typing tests and databases for mule deer in the Province of Alberta. Two multiplex PCR reactions interrogating 10 loci were used to analyze samples from three populations of mule deer. Additionally, an amelogenin based sex-typing marker was used to determine the gender of samples. Results show that the tests and databases are appropriate for use in forensic applications. Additionally, the results indicate that there is little population structure in mule deer in Alberta and that no changes to management of this game species are suggested.     

Discriminating sex in South African blacks using patella dimensions

For many years, sex determination has been carried out on skeletal remains to identify individuals in forensic cases and to assess populations in archaeological cases. Since it has been shown that not all bones are found in a forensic case, discriminant function equations should be derived for all bones of the body to assist in sex determination. Numerous studies have shown the usefulness of bones of the lower extremity (e.g. femur, tibia) in sex determination using discriminant function analysis, but the use of patella measurements has not been extensively investigated for this purpose. It is therefore the aim of this study to derive discriminant function equations for sex determination from measurements of the patella of South African blacks as represented in the Raymond A. Dart Collection of Human Skeletons. A total sample of 120 (60 male, 60 female) patellae were measured using six measurements. The Statistical Product and Service Solutions (SPSS) program was used to derive the equations. Stepwise and direct analyses were performed with the highest rate of classification of 85% thereby making the patella useful for sex determination. Thus, the proposed equations derived from this study should be used with caution and only on the South African black population group.     

Y-chromosome STR haplotypes in the Açores Archipelago (Portugal)

Allele and haplotype frequencies of 10 Y-chromosome STR loci were co-amplified in a sample from the A?ores Islands (Portugal). We found high haplotype diversity in the A?ores sample (0.998). The genetic profile of this population revealed to be statistically different from that of Madeira Island and from North Portugal, two related populations with already a fairly amount of published data. This result stresses the importance of using local databases in forensic genetics.     

A multivariate statistical approach to for the evaluation of the biogeographical ancestry information from traditional STRs

The capability to achieve biogeographic ancestry (BGA) information from DNA profiles have been largely explored in forensic genetics because of its potential usefulness in providing investigative clues. For law enforcement and security purposes, when genetic data have been obtained from unknown evidence, but no reference samples are available and no hints come out from DNA databases, it would be extremely useful at least to infer the ethno-geographic origin of the stain donor by just examining traditional STRs DNA profiles.Current protocols for ethnic origin estimation using STRs profiles are usually based on Principal Component Analysis approaches and Bayesian methods. The present study provides an alternative approach that involves the use of target multivariate data analysis strategies for estimation of the BGA information from unknown biological traces. A powerful multivariate technique such as Partial Least Squares-Discriminant Analysis (PLS-DA) has been applied on NIST U.S. population datasets containing, for instance, the allele frequencies of African-American, Asian, Caucasian and Hispanic individuals. PLS-DA approach provided robust classifications, yielding high sensitivity and specificity models capable of discriminating the populations on ethnic basis. Finally, a real casework has been examined by extending the developed model to smaller and more geographically-restricted populations involving, for instance, Albanian, Italian and Montenegrian individuals.     

Forensic genetic value of 27 Y-STR loci (Y-Filer® Plus) in the South African population

South Africa has one of the highest rape statistics in the world, with an average of 117 rapes reported daily. Y-STR genotyping is becoming a popular tool in the analysis of DNA evidence collected after a crime of a sexual nature has been committed, but has yet to be implemented in South Africa’s forensic laboratories. This study aimed to investigate the forensic value of the 27 Yfiler™ Plus loci in the South African population. A total of 271 samples from the African, Asian/Indian, Mixed Ancestry¹, and Caucasian populations at the University of the Free State in Bloemfontein, South Africa were amplified and analysed using ThermoFisher Scientific’s Yfiler™ Plus PCR Amplification kit. Of the 271 samples, 261 were identified to be unique, with an overall discrimination capacity of 98.15%. Discrimination capacities ranged from 91.67% for the Asian/Indian population to 100% for the Mixed Ancestry population. The haplotype diversity across the four populations is 0.9999, with an average gene diversity across all loci of 0.717. The forensic parameters estimated in this study provide evidence for the potential use of the commercial Yfiler™ Plus PCR amplification kit in a forensic application in South Africa.     

The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases

This article describes a generic model for access to samples and information in human genetic databases. The model utilises a "GeneTrustee", a third-party intermediary independent of the subjects and of the investigators or database custodians. The GeneTrustee model has been implemented successfully in various community genetics screening programs and has facilitated research access to genetic databases while protecting the privacy and confidentiality of research subjects. The GeneTrustee model could also be applied to various types of non-conventional genetic databases, including neonatal screening Guthrie card collections, and to forensic DNA samples.     

Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples. A collaborative study

Many X-chromosome short tandem repeats (X-STRs) have been validated for forensic use even if further studies are needed on allele frequencies and mutation rates to evaluate the extent of polymorphism in different populations and to establish reference databases useful for forensic applications and for anthropological studies. A single multiplex reaction of seven X-STRs, which includes the DXS6789, HUMARA, DXS10011, DXS7423, HPRTB, DXS6807, DXS101 loci, is presented and their allele frequency distribution in a large population sample including 556 subjects (268 females and 288 males) analysed by five forensic laboratories of Central and Northern Italy is shown. Our results demonstrate the feasibility of a single amplification/detection reaction involving seven markers of the X chromosome, which can be fruitfully used in complex kinship analysis.     

Pistol image retrieval by shape representation

Databases have been used to record data in forensic science, such as fingerprints, shoeprints, and photos. In traditional databases, we use “text” as the “keyword” for retrieving data (text-keyword retrieval); however, in some applications, “text” is not proper to describe the searching target, and in this case, “image” plays an important role. In this paper, we use “image features” as the “keywords”, and show its potential for building up a prototype of pistol image databases.In current firearm databases of forensic science, the retrieval method is still by text-keyword retrieval. For experienced forensic examiners, this kind of databases may satisfy their requirement. However, for people who have little gun knowledge, how can they find the possible gun candidates or similar guns in the databases, if there are not any available words or marks on the gun? In this paper, we try to retrieve similar pistol images by the pistol shape instead of “text-keyword”. This method can narrow down the searching range while identifying pistols by firearm databases.There are more than 300 pistol images in our pistol image database. From the experimental results, we can retrieve the similar pistol images in top five candidates for each pistol image.     

Sample collection strategies when building mitochondrial DNA forensic databases

For establishing databases that capture the existing diversity in populations, the sample collection strategy is a determining factor and caution must be taken when choosing the suitable approach. Many researchers choose to restrict the sampling to individuals with inheritance for three generations in a specific geographic location. However, the appropriate database in a forensic context is the one representing the current population. We analyzed mtDNA composition across generations in populations from Colombia, Ecuador, and Paraguay. An overall genetic homogeneity was detected, with statistically significant differences on macrohaplogroup frequencies for few department/regions.     

A multifaceted,multijurisdictional, multiagency,and multidisciplinary approach to investigating unidentified and missing persons cases in Australia

Currently, there are approximately 750 unidentified human remains and 2500 long-term missing persons in Australia. The Australian Federal Police National DNA Program for Unidentified and Missing Persons (Program) is using a multifaceted, multijurisdictional, multiagency, and multidisciplinary approach in a dedicated effort to identify these unknown deceased persons, scientifically link them to known missing persons, and provide answers to their families. The nationally coordinated Program provides its police, forensic, and coronial stakeholders with a suite of contemporary forensic technologies, databases, and experts to forensically examine the skeletonised remains and recover post-mortem data for comparison to the available ante-mortem data for each missing person. Through a number of physical and virtual public outreach activities, families with missing relatives have been encouraged to provide vital ante-mortem forensic information, records, and samples to aid the identification process. To date, this unique Program has assisted to resolve a number of unidentified and missing persons cases from both historical and contemporary contexts, using a combination of genetic and non-genetic techniques, and local and national databases. The centralisation of Program capabilities, expertise, and resources to conduct this type of unique and challenging casework is proving to be the most effective and efficient way to generate investigative leads, identify human remains, and resolve long-term missing persons cases in Australia.     

Autosomal microsatellite allele frequencies for a nationwide dataset from the Australian Caucasian sub-population

DNA profiling results presented in court must be accompanied by a statistical estimate of its evidential weight. In calculating such statistics, allele frequencies from the tested loci are required. This paper reports allele frequencies and the results of population genetic testing of datasets of autosomal microsatellite profiles from Australian Caucasian donors. In contrast to previous practice in Australia these data have been collated at the national level rather than at the State and Territory level. We consider that this national dataset could be used in forensic DNA casework throughout Australia as previously recommended by Ayres et al. [K.L. Ayres, J. Chaseling, D.J. Balding, Implications for DNA identification arising from an analysis of Australian forensic databases, Forensic Sci. Int. 129 (2002) 90-98].     

Social and Ethical Issues in the Use of Familial Searching in Forensic Investigations: Insights from Family and Kinship Studies

This article explores the socio-ethical concerns raised by the familial searching of forensic databases in criminal investigations, from the perspective of family and kinship studies. It discusses the broader implications of this expanded understanding for wider debates about identity, privacy and genetic databases.     

Divergent genetic strata in five Bahamian islands

Based on historical records, the genetic landscape of the Bahamian archipelago is presumed to be complex and to exhibit island-specific characteristics, yet the genetic composition of the island chain, which could corroborate or refute these past accounts, remains poorly defined. As such, the current investigation was undertaken to genetically characterize 5 Bahamian populations representing the Northwest (Grand Bahama and Abaco) and Central (Eleuthera, Exuma and Long Island) Bahamas across the 15 autosomal Identifiler loci routinely employed in forensic analyses. Altogether, our findings suggest that Bahamians are a genetically heterogeneous group, with each island sampled receiving differential contributions from African, European, East Asian and Native American sources. Even though the strongest genetic signal in all 5 collections emanates from continental Africa, inter-island differentiation is noted in both the Structure and admixture analyses. The presence of alleles not in common among the 5 insular populations also signals genetic heterogeneity among the islands of the archipelago. This is especially the case when considering the Long Island population, which exhibits statistically significant genetic differences in relation to the other Bahamian collections and the New World groups of African descent (Afro-American and Afro-Caribbean) in the G-test pair-wise comparisons, even after application of the Bonferroni adjustment.