Miguel Bolea

Association between ancient bone preservation and dna yield: A multidisciplinary approach

Ancient molecular typing depends on DNA survival in archaeological bones. Finding valuable tools to predict DNA presence in ancient samples, which can be measured prior to undertaking a genetic study, has become an important issue as a consequence of the peculiarities of archaeological samples. Since the survival of DNA is explained by complex interrelations of multiple variables, the aim of the present study was to analyze morphological, structural, chemical, and biological aspects of a set of medieval human bones, to provide an accurate reflection of the state of preservation of the bony components and to relate it with DNA presence. Archaeological bones that yielded amplifiable DNA presented high collagen content (generally more than 12%), low racemization values of aspartic acid (lesser than 0.08), leucine and glutamic acid, low infrared splitting factor, small size of crystallite, and more compact appearance of bone in the scanning electron micrographs. Whether these patterns are characteristic of ancient bones or specific of each burial site or specimen requires further investigation.

Mitochondrial diversity in Amerindian Kichwa and Mestizo populations from Ecuador

This study presents mitochondrial DNA (mtDNA) data from 107 unrelated individuals from two of the major ethnic groups in Ecuador: Amerindian Kichwas (n = 65) and Mestizos (n = 42). We characterized the diversity of the matrilineal lineages of these Ecuadorian groups by analyzing the entire mtDNA control region. Different patterns of diversity were observed in the two groups as result of the unique historical and demographic events which have occurred in each population. Higher genetic diversity values were obtained for the Mestizo group than for the Amerindian group. Interestingly, only Native American lineages were detected in the two population samples, but with differences in the haplogroup distribution: Kichwa (A, 49%; B, 3%; C, 8%; and D, 40%) and Mestizo (A, 33%; B, 33%; C, 10%; and D, 24%). Analysis of the complete mtDNA control region proved to be useful to increase the discrimination power between individuals who showed common haplotypes in HVSI and HVSII segments; and added valuable information to the phylogenetic interpretation of mtDNA haplotypes.

Genetic analysis of 7 medieval skeletons from the Aragonese Pyrenees.

Aim To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees. Methods Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y chromosome single nucleotide polymorphisms (Y-SNP) markers, respectively. Possible familial relationships were also investigated. Results Complete or partial STR profiles were obtained in 3 of the 7 samples. Mitochondrial DNA haplogroup was determined in 6 samples, with 5 of them corresponding to the haplogroup H and 1 to the haplogroup U5a. Y-chromosome haplogroup was determined in 2 samples, corresponding to the haplogroup R. In one of them, the sub-branch R1b1b2 was determined. mtDNA sequences indicated that some of the individuals could be maternally related, while STR profiles indicated no direct family relationships. Conclusions Despite the antiquity of the samples and great difficulty that genetic analyses entail, the combined use of autosomal STR markers, Y-chromosome informative SNPs, and mtDNA sequences allowed us to genotype a group of skeletons from the medieval age.

Analysis of 10 X-STRs in three population groups from Ecuador.

X-chromosomal short tandem repeat (X-STR) loci provide a useful tool for forensic purposes [1]. Due to a sex-based mode of inheritance, the use of this genetic system has become extremely valuable in paternity testing, especially in deficiency cases involving female offspring [2]. Ecuador is a multi-ethnic country in which the admixed population of Mestizos represents 72% of the population while Native Americans account for 7% with Kichwa being the largest [3]. A second population deserving interest is the Waorani, the last population of Native American hunter-gatherers in the Eastern region of the nation. The population is composed of 3000 individuals [4] and has been previously characterized as genetically unique [5] attributed to prolonged isolation, high inbreeding and low population size. Previous studies focused on autosomal and uniparentally inherited markers [6–11] have shown evidence of the high diversity existing in the Ecuadorian population as a result of its complex history and multi-ethnic richness. However, current information on the variability of X-chromosome in Ecuador is limited [5]. This study aimed to explore the genetic structure and dynamics of Ecuadorian Waorani, Kichwa and Mestizo populations from the perspective of the X chromosome based on 10 X-STRs [12]. A population sample of 139 maternally unrelated individuals born and living in Ecuador were selected: 32 Waoranis (17 males and 15 females) and 65 Kichwas (27 males and 38 females) from the Amazonian provinces; and 42 Mestizos (28 males and 14 females) from different regions of the country. All donors gave their informed consent prior to their inclusion in the study. DNA was extracted from saliva swab samples and blood stains on FTA cards (Whatman Inc., Clifton, NJ) using the Chelex extraction procedure [13]. X-STR amplification (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789) was performed according to Gusmao et al. [12]. Alleles were separated and detected using an ABI Prism 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA). Allele frequencies were calculated using the direct counting method. Gene diversities, Hardy– Weinberg equilibrium (females), linkage disequilibrium (males) and pairwise exact test of population differentiation were tested using Arlequin software v3.0 [14]. Pairwise population comparisons between the Ecuadorian populations were performed at a single locus level (exact test of population differentiation and Fst genetic distance analysis) and for the 10 X-STRs (Fst genetic distance analysis). Additionally, pairwise Fst genetic distances were calculated between the populations from Ecuador and other available populations with the same 10 X-STRs [15–20]. Unweighted pair group method with arithmetic mean was used to build a phylogenetic tree based on Fst distances using the option

Aggressions against healthcare workers: An approach to the situation in Spain and the victims psychological effects

Aggression against healthcare workers is a problem of important consequences which is becoming a focus of research. However, its possible effects on psychological health have not been studied sufficiently in spite of the fact that they may be of importance even in the absence of physical aggression [Winstnaley S, Whittington R. Aggression towards health care staff in a UK general hospital: variation among professions. J Clin Nurs 2004;13:3-10,[1]].

Distribution of HLA DQ A1 alleles and genotypes in two Spanish populations (Aragon and Asturias)

HLA DQ A1 is probably one of the PCR-based genetic marker systems most widely used in actual forensic casework analyses. As accurate data about the distribution of the alleles is one of the most important prerequisites for the application in forensic biology, we studied the allele distribution in two relevant Spanish populations (Aragonese and Asturian). Results were in good agreement with the Hardy-Weinberg law in both Aragonese and Asturian populations. The power of discrimination was 0.92 in the Aragonese and 0.93 in Asturian sample. A test for homogeneity of the HLA DQ A1 population data based on alelle frequency counts for 12 European samples was performed and no significant differences were found (P = 0.831).

0250 Neck and upper limb complaints in health workers: a warning of mental strain, or just a mechanical problem?

Background MSDs are the most prevalent work-related diseases in the European Union (EU). Developmental pathways of these health problems are known to be related to physical and psychosocial working conditions Objectives and Methods This study aimed to describe physical and psychological risk factors involved in the appearance of neck and upper limb MSDs in workers. A survey was conducted in health workers of the La Rioja Regional Department of Health (Spain) (n=3939) using an observational design. Over a 12 month period, all health workers from this Department who used the Occupational Medicine Service for neck and upper limb pain and discomfort were invited to participate. Finally, a total of 707 health workers were recruited for the survey. Information on workplace exposure to physical and psychological risks was collected using three different tools: the Standardised Nordic Musculoskeletal questionnaire, the Siegrist’s and a self-reporting questionnaire (drafted ad hoc and validated prior to administration ) to gather socio-demographic and occupational variables. Results and conclusions A high prevalence of neck and upper extremity symptoms has been found among our sample (73.55%). The most common location was neck (65.77%). Being a female worker with high physical workload, low career progress and over-involvement at work was configured as a risk profile. The studied symptoms were highly predicted by the existence of work stress and effort-reward imbalance. Therefore, medical doctors should be aware of what may be behind of these complaints, as they could be a warning of underlying mental strain and potential exposure to psychosocial risks.