Development and Validation of MPS-Based System for Human Appearance Prediction in Challenging Forensic Samples

Forensic DNA phenotyping (FDP) provides the ability to predict the human external traits from unknown sample donors, directly from minute amounts of DNA found at the crime scene. We developed a MPS multiplex assay, with the aim of genotyping all 41 DNA markers included in the HIrisPlex-S system for simultaneous prediction of eye, hair and skin colours. Forensic samples such as blood, skeletal remains, touch DNA, saliva swab, artificially degraded samples together with individuals with known phenotypes and a set of 2800 M control DNA were sequenced on the Ion Torrent platform in order to evaluate the concordance testing results and the forensic suitability of the 41-plex MPS assay. The panel was evaluated by testing a different number of PCR cycles and the volume of reagents for library preparation. The study demonstrated that full and reliable profiles were obtained with 0.1–5 ng, even with high degraded DNA. The increment of the number of PCR cycles results in an improvement of correctly genotyping and phenotyping for samples with low amounts of degraded DNA but higher frequencies of artefacts were found. The high DNA degradation level did not influence the correct genotyping and phenotyping and the critical parameter affecting the result is the quantity of input DNA. Eye and hair colour was predicted in 92.60% of individuals and skin colour in 85.15% of individuals. The results suggest that this MPS assay is robust, highly sensitive and useful for human pigmentation prediction in the forensic genetic field

Misconceptions about HIV infection in Kinshasa (Democratic Republic of Congo): a Case-control Study on knowledge, attitudes and practices

Objectives: To evaluate the prevalence of HIV-related misconceptions in an Outpatient Centre of Kinshasa (D.R.Congo) and analyze the association between these beliefs and HIV infection. Methods: A case-control study was carried out from December 2010 until June 2012. We assessed 1,630 participants aged 15-49 attending a primary outpatient centre in Kinshasa: 762 HIV Voluntary Counseling and Testing attendees and 868 blood donors. A 59-item questionnaire about knowledge, attitudes and practice was administered during a face-to-face interview, followed by an HIV test. Cases and controls were respondents with a newly diagnosed HIV positive or negative test, respectively. Unconditional logistic regression was used to analyse the association between misconceptions and HIV seropositivity. Results:Two hundred and seventy four cases and 1,340 controls were recruited. Cases were more likely than controls to have a low socioeconomic status, no education, to be divorced/separated or widowed. An association was found between the following variables and HIV-seropositivity: having a poor HIV knowledge (adjusted OR=2.79; 95%CI:1.43-5.45), not knowing a virus is the cause of AIDS (adjusted OR=2.03; 95%CI:1.38-2.98) and reporting more than three HIV-transmission-related misconceptions (adjusted OR=3.30; 95%CI:1.64-6.64), such as thinking an HIV+ person cannot look healthy and that HIV is transmitted by sorcery, God´s punishment, a kiss on the mouth, mosquitoes, coughs/sneezes or undercooked food. Conclusion:Despite having access to health care services, there are still many people in Kinshasa that have HIV-related misconceptions which increase their HIV risk. Our findings underscore the need for a culturally-adapted and gender-orientated basic HIV information into Congolese HIV prevention programs

Beringian Standstill and Spread of Native American Founders

Native Americans derive from a small number of Asian founders who likely arrived to the Americas via Beringia. However, additional details about the intial colonization of the Americas remain unclear. To investigate the pioneering phase in the Americas we analyzed a total of 623 complete mtDNAs from the Americas and Asia, including 20 new complete mtDNAs from the Americas and seven from Asia. This sequence data was used to direct high-resolution genotyping from 20 American and 26 Asian populations. Here we describe more genetic diversity within the founder population than was previously reported. The newly resolved phylogenetic structure suggests that ancestors of Native Americans paused when they reached Beringia, during which time New World founder lineages differentiated from their Asian sister-clades. This pause in movement was followed by a swift migration southward that distributed the founder types all the way to South America. The data also suggest more recent bi-directional gene flow between Siberia and the North American Arctic

Variabilita' genetica a livello del DNA mitocondriale nei Cayapa dell'Ecuador e confronto con altre popolazioni indiane americane

Dottorato di ricerca in biologia evoluzionistica. 7. ciclo. Docenti guida V. Sbordoni e O. Rickards. Coordinatore E. CapannaConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal

Restriction Fragment Length Polymorphisms of Type I Collagen Locus 2 (COL1A2) in Two Communities of African Ancestry and Other Mixed Populations of Northwestern Ecuador

Restriction fragment length polymorphisms are good anthropological markers for discriminating geographically distinct populations at both the allele and the haplotype level. Two communities of African ancestry and ladinos, mestizos, and mulattoes living in the Esmeraldas province in northwestern Ecuador were analyzed for three RFLPs (EcoRI, RsaI, and MspI) of the COL1A2 gene. Also, the same markers were studied in a population sample from Spain to compare the allele and haplotype frequencies of the Esmeraldas populations with those of their representative European parental population. Data for the native American and sub-Saharan African founder components were available from the literature. No significant levels of differentiation between the two African Ecuadoran communities emerged from either the frequency analysis of each single marker and all three RFLP markers together or from the AMOVA. The ladinos and mestizos also showed a rather similar distribution of allele and haplotype frequencies, confirming that the two ethnic terms do not correspond to genetically different populations. The comparison with the supposed founding European, sub- Saharan African, and native American populations indicated a large presence of African genes in the gene pool of both communities, with a higher proportion of the Amerindian component in Viche than in Rio Cayapas. The present findings confirm the previous genetic admixture estimates based on nuclear and mitochondrial DNA markers and the demographic data