Migration is one of the main factors for genetic variability within populations’. Currently, the Portuguese population, and particularly the population from Lisboa, welcomes a considerable number of immigrants. Brazilian immigrants are the main foreign community in Portugal, with about 80 000 individuals in 2015. Insertion/deletion polymorphisms - InDels -, are characterized by the presence or absence of small DNA sequences?. These variations constitute a group of genetic markers with advantages for forensic identification, especially in highly degraded biologic samples, due to the small size of the amplification fragments. Furthermore, InDels have lower mutation rates making them useful for complex cases of biological kinship

Since the early 70's, the flow of immigrants from African countries to Portugal has increased. According to Portugal Contemporary Base - PORDATA -, by the end of 2013, the total number of immigrants from PALOP (Portuguese-speaking African countries) in Portugal was about 100 000, and from those, 75 000 are part of Lisboa population. The number of immigrants in Portugal is an unavoidable reality and the migratory phenomenon in this country and, particularly in Lisboa, can become one of the main factors for the genetic variability The single nucleotide polymorphisms (SNP) typically involve substitution of a nucleotide in DNA sequence, resulting an exchange on the sequence. SNP in forensic genetics are mainly used in samples where DNA is degraded, since only a small target DNA region is necessary because the size of the amplified product is under 100 bp. Recent advances in the SNP markers, show us the growing interest of Forensic Genetics in their use. Markers located on the Y chromosome have special interest and application in origin and evolution population studies. Each chromosome has the story of millions of years of evolution and Y chromosome is no exception, telling the story of a male lineage. Having diverged from the same ancestral that the Xchromosome, the Y chromosome passed from generation to generation without change, except for the occurrence of mutations. Y-SNPs are single nucleotide polymorphisms, with ancestry and population applications, and also with forensic application. Since there is no data for Y-SNPs markers of PALOP immigrants living in Lisboa, our aim is the characterization of those groups of individuals by typing them with a panel of Y-SNPs proposed by Rosser and collaborators in 2000, with 9 YSNPs markers, and compare different groups of individuals/populations.

Since the end of the 1970s, Portugal had a role in the migratory movements, becoming a destiny for immigrants from a wide range of nationalities, especially from the African continent. According to statistical data, until the end of 2014, there were approximately 99 000 African immigrants living in Portugal. The Mozambican community is about 3 000 individuals, of which more than a half are currently living in Lisbon metropolitan region [1]. Mitochondrial DNA (mtDNA) is a useful tool, not only in evolutionary and population studies, but also in forensic genetics. Due to its unique features, including maternal inheritance, lack of recombination, high copy number and high mutation rate, mtDNA has been used to measure the genetic impact of human migration and also for human identity testing [2,3]. The analysis of mtDNA allows to trace the ancestral origin of each population, revealing the evolutionary history of maternal lineages across several generations. The aim of our study is the genetic characterization of Mozambican immigrants living in Lisbon, in order to emphasize their genetic contribution to Lisbon population. We also pretend to classify haplotypes into haplogroups and to compare this population with other African populations.

Guiné-Bissau, officially known as the Republic of Guiné-Bissau, is a country on the west coast of the African Continent. Colonized in the nineteenth century, Guiné-Bissau was the first Portuguese colony in Africa with independence recognized by Portugal. Before the arrival of Europeans and until the seventeenth century, almost all of the territory of Guiné-Bissau was part of the Kingdom of Gabu, part of the Mali Empire. In the late seventies, migration flows, related to the post-colonial phase, led to Guinean community became the sixth largest immigrant community in Portugal. Most of those immigrants are based in Lisboa metropolitan region. Those individuals have contributed to increased heterogeneity in social, cultural, religious, linguistic and anthropological frame in Portugal. In recent decades the mtDNA became an important genetic marker in human population studies as well as in forensic studies. The interest in the analysis of mtDNA is explained by the characteristics of the molecule, as high copy number per cell in the same individual, maternal inheritance, absence of recombination and high mutation rate. Therefore, unlike nuclear DNA, mtDNA does not get shuffled every generation, so it is presumed to change at a slower rate, which is useful for the study of human evolution. The main goal of our study was to determine the haplotypes and respective haplogroups of Guineans individuals living in Lisboa, to be possible to obtain the mtDNA genetic structure of the population under study and evaluate the impact of immigrant individuals in the Lisboa region.

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(1). 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(3,4). 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.

Typing X-chromosome markers (ChrX) is important to complement the analysis of Y and autosomal (AS) short tandem repeats (STR). The main field of the ChrX is kinship investigations, especially investigations of mother/son, father/daughter and complex kinship tests. When the alleged father is not present, the ChrX investigation is more accurate because the mean exclusion chance of X-STRs in these cases is higher. ChrX markers testing also prove helpful for kinship tests in which only remote relatives are available for testing, particularly from the need to rejoin families in the context of war, mass disasters and world-wide migration. Since male family members are more likely to be affected by the consequences of socio-demographic unrest than females, and it may therefore be more difficult to obtain samples from them, ChrX marker testing could be a very useful tool. Immigrant populations contributes to increase social, cultural, religious, linguistic, anthropological and genetic heterogeneity in a population. According to the portuguese database PORDATA , in 2016, the number of immigrants from Brazil who have fixed residence in Portugal was 79,569. From those, up to 40.084 live in Lisboa and near cities. Consequently, we are therefore faced with a population reality completely different from the one at the early ninety’s of the last century. Before forensic application, it´s important to study population data and to construct reference databases to document the genetic variation of specific STR among worldwide populations. Population data is vital to quantify the evidentiary value of a match in forensic evaluation. The aims of this study were to calculate allele frequencies and create a population database for X-STR markers for Brazil natives, living in Lisboa for future use in forensic genetics practice.

The population in this study is composed of individuals who were born and live in Lisbon, and whose parents were also born in Lisbon. Due to the lacking of population studies regarding the following new STRs (Short Tandem Repeats): D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D21S2055, it was necessary to evaluate their frequencies in Lisbon’s population. Often, in complex cases, in order to confirm previously obtained results, the Investigator HDplex Kit (Qiagen) amplifies a set of STR markers, most of which are not featured in commonly used marker standards. This enables the reliable differentiation of forensic samples, providing a heightened discriminatory power in these demanding cases. The aim of this study is to analyze the frequencies of these additional STRs among Lisbon’s population.

The increasing number of immigrants in Portugal is an unavoidable reality. According to Portugal Contemporary Base - PORDATA -, by the end of 2013, the foreign population living in Portugal was about 398.268, i.e., about 4% of the total population. The total number of immigrants from Portuguese-speaking African countries (PALOP) was about 100.800, from which 20.000 were from Angola, 42.000 from Cabo Verde, 176.600 from Guiné-Bissau, 2.850 from Moçambique and 10.170 from São Tomé e Príncipe. From those 100.800, about 75.000 are part of Lisboa population. The migratory phenomenon in Portugal can be one of the main factors for the genetic variability. In the last years, a new class of autosomal insertion/deletion markers - InDel -, has gained interest in forensic genetics. They are characterized by the presence or absence of a specific sequence of nucleotides. Significative differences in allele frequencies of InDel markers, between different groups or populations, can be used as evolutionary and ancestry indicators. Since there is few data for InDel markers of PALOP immigrants living in Lisboa, our aim is to characterize those groups of individuals by typing them with, at least, 30 markers and compare different groups of individuals/populations.

At the scope of criminal and forensic investigations, the criminal authorities, health professionals, and many other intervenients can obtain different kinds of samples with biological material. The study of those samples by DNA laboratories can lead to the achievement of genetic profiles. CODIS and similar informatic DNA databases, by storing and managing those genetic profiles, can aid at criminal investigation by linking perpetrators to biological evidence samples. The same way CODIS can aid at human civil identification by linking relatives of missing persons to biological evidence samples. Thus, these novel intersections between biology, medicine, informatics, mathematics, engineering and law can lead to the resolutions of different kinds of crimes as well as other forensic matters such as human civil identification or clarification of kinship relations.