Clastogenic effects of bisphenol A on human cultured lymphocytes.

Bisphenol A is an endocrine disrupting compound widely used in the production of polycarbonate plastics and epoxy resins. It is ubiquitously present in the environment, mostly in aquatic environments, with consequent risks to the health of aquatic organisms and humans. In the present study, we analysed the cytogenetic effects of bisphenol A on human lymphocytes using in vitro chromosomal aberrations and micronuclei assays. Lymphocyte cultures were exposed to five different concentrations of BP-A (0.20, 0.10, 0.05, 0.02 and 0.01 µg/mL) for 24 h (for chromosomal aberrations test) and 48 h (for micronuclei test). The concentration of 0.05 µg/mL represents the reference dose established by United States Environmental Protection Agency (US EPA); 0.02 µg/mL represents the higher concentration of unconjugated BP-A found in human serum and 0.01 µg/mL represents the tolerable daily intake established by European Union. Data obtained from both assays showed significant genotoxic effects of the bisphenol A at concentrations of 0.20, 0.10 and 0.05 µg/mL, whereas at the concentration of 0.02 µg/mL, we observed only a significant increase in the micronuclei frequency. Finally, at the concentration of 0.01 µg/mL, no cytogenetic effects were observed, indicating this latter as a more tolerable concentration for human health with respect to 0.05 µg/mL, the reference dose established by US EPA.

Frequency distribution of six cytokine gene polymorphisms in North- and South-Italy.

Allelic and genotype frequencies of four cytokine genes were obtained from 738 subjects from North- and South-Italy. Populations were in Hardy-Weinberg equilibrium for all genes but significantly differed in the frequency of all SNPs and three haplotypes. In the MDS graph, they were plotted in separate positions close to Europeans and an Ivorian population, respectively.

De novo transcriptome sequencing of a non-model polychaete species.

Transcriptome sequencing is a useful method for studying gene-sequences data, especially in non-model organisms whose genomic sequences are yet to be determined. Indeed, even without any genome reference, transcripts can be assembled de novo to produce a genome-scale transcription map. Here we describe a de novo transcriptome assembly for the polychaete worm Ophryotrocha diadema, generated from 454-sequencing (Roche GS-FLX Titanium Sequencing). We describe the sequencing, the assembly and functional annotation of EST sequences, and the level of transcriptome coverage provided by our sequence data. The sequences we assembled represent a wide depiction of expressed genes from throughout the lifespan of O. diadema. We found gene sequences to be part of a broad range of functions (i.e. biological and metabolic processes, immune system, reproductive processes, development and growth, signalling and response to stimuli) and we therefore built the first transcriptomic reference for Ophryotrocha polychaete worms. These results encourage us to focus our investigation on many aspects of O. diadema and to extend our research to co-generic species.

Chromosomal damage in peripheral blood lymphocytes from nurses occupationally exposed to chemicals.

In the present study, we evaluated the induced genome damage in peripheral blood lymphocytes from a sample of nurses occupationally exposed to low doses of different chemicals. A comprehensive multi-biomarker approach using cytogenetic endpoints was employed for analyzing chromosomal aberrations (CAs) and sister chromatid exchange (SCE) assay. The study included 20 nurses and 20 control subjects matched in age, gender and smoking habits. Nurses were exposed to different chemicals, such as cytostatic drugs, anaesthetics, formaldehyde and other sterilizing gases. Significant differences were found between exposure group and control group in terms of SCEs frequency (p < 0.001) but not in terms of replication index value (p = 0.845) and CAs (p = 0.236). Regression analyses indicated that the age and the exposure years did not influence the amount of the chromosomal damage among nurses. Vice versa, among controls, a positive correlation was found between the number of SCEs and age. In conclusion, our results suggest that a continuous long-term exposure to low doses of chemicals could result in increased levels of SCEs among nurses. This data emphasize the importance of biomonitoring nurses and other hospital workers handling drugs.

Genotyping for cytokine polymorphisms in a Northern Ivory Coast population reveals a high frequency of the heterozygote genotypes for the TNF-α-308G/A SNP.

Cytokine polymorphisms influence the outcomes of parasitic diseases and vary among populations because of their different evolutionary histories and selective pressures imposed by host-pathogen interactions. In this frame, we investigated the frequencies of TNF-α (-308G/A), TGF-ß(1) (codon 10C/T, codon 25C/G) and IL-10 (-1082A/G) SNPs in 133 individuals from Ouangolodougou, a rural village in Northern Ivory Coast, where malaria and other parasitic diseases are endemic. The SNPs alleles were determined by ARMS-PCR methodology. Allele frequencies of the SNPs investigated were as follows: IL 10 -1082G = 0.741 and -1082A = 0.259; TGF-ß(1) Codon 10 C = 0.835 and T = 0.165; TGF-ß(1) Codon 25 G = 0.782 and C = 0.218. For the TNF-α gene, we found high frequencies of the -308A allele (0.305) and heterozygote genotypes (0.594), with a consequent deviation from the Hardy-Weinberg equilibrium. The high heterozygosity at the TNF-α locus suggests a possible selective advantage of the heterozygote genomes, associated with intermediate levels of TNF-α expression, against the infectious agents endemic in Western Africa.

Demographic structure and microevolution of an Italian alpine isolated population.

The isonymic method has been generally accepted in population genetic studies and surnames have been successfully used to investigate human populations as if they were genetic markers associated to the Y chromosome. In this study we analysed the microevolution dynamics of Postua, a mountain village of North Western Italy, by means of demographic methods. The uniqueness of this community is due to its past geographical and cultural isolation and to the high frequency of marriage between relatives. During the study period considered (1640-1989) the population underwent several fluctuations in size and other demographic parameters such as the endogamy, isonimy and consanguinity rates. Until the first half of the XIX century Postua appears to be a village characterised by a closed and isolated community, with high endogamy (80-90%) and isonimy (up to 34.4%). Only at the beginning of the XX century, when the population started to be subjected to significant immigration fluxes, data show a progressive reduction of the isolation. The population showed two demographic peaks, the first around the second half of the XVIII century (1639 inhabitants) and the second at the end of the XIX century (1464 inhabitants). The S/Nratio was low (0.2-0.3) and relatively constant until the beginning of the last century, and only in the last three decades of the XX century, when the population was subjected to immigration, Postua showed a significant increase in the S/Nratio values (to about 0.9). The surname frequency was constant until the 1850 when almost all surnames were the same as those already present in the XVII century. From the first half of the XIX century, the founder surnames decreased, whereas new surnames started to increase and became persistent in the population.

Alu insertion polymorphisms at 11 loci in a Piedmont (Northern Italy) sample.

Eleven human-specific Alu insertion polymorphic loci (ACE, APO, A25, B65, D1, FXIIIB, HS2.36, HS2.43, HS3.23, PV92, TPA25) were analyzed in a population sample of 263 unrelated healthy individuals native of Piedmont (North-Western Italy). Alu insertion frequency and heterozygosity values were highly variable in all loci, except for the HS2.36 locus.

COL1A2 gene deletion polymorphism in an Italian and an Ivorian populations.

The COL1A2 gene is one of the two genes encoding for the polypeptides of type I collagen, that represent the major constituent of skin, bone, tendons, ligaments, blood vessels, dentin, and many interstitial tissues. The COL1A2 gene deletion polymorphism has been considered as an informative anthropological marker for describing geographically distinct human populations. Aim of the present study was to investigate the genetic variability at COL1A2 locus in two populations, one belonging to Ouangolodougou (N = 133), a village placed in Northern Ivory Coast, and one belonging to Lecco (N = 70), a village placed in a Northern Italy region called Lombardy. For each sampled population no data are available in literature. We reported, for the first time, the presence of the deleted allele among Ivorians (0.06), confirming the low deletion frequency of this polymorphism found in Sub Saharan Africa by other authors. For Italians, frequency analysis of this gene polymorphism (0.28 for the deleted allele) did not show any significant level of differentiation with respect to other Italian and European populations.

Erythrocyte polymorphisms in five ethnic groups of Northern Côte d'Ivoire.

Distribution of some erythrocyte polymorphisms was investigated in five Northern Côte d'Ivoire ethnic groups. For the ABO blood group system, the frequencies of alleles p, q and r were 0.119, 0.150 and 0.731, respectively, while the frequencies of alleles D and d of the Rh blood group system were 0.726 and 0.274, respectively. These values are consistent with published data, while the high incidence of HbAS genotype could result from microevolutionay trends acting on this relatively small population. No 27-bp Southeast Asian ovalocytosis gene deletion was found in the sample.

Glutathione S-transferase T1 (GSTT1) and M1 (GSTM1) polymorphisms in a sample of the population in Northern Italy.

Glutathione S-transferase is a group of multifunctional enzymes important in the metabolism of xenobiotics. GSTT1 and GSTM1 are polymorphic in human populations. Since a relation between polymorphism and cancer susceptibility has been found, their distribution in human populations is of great interest. In the present study the distribution of GSTT1 and GSTM1 genotypes was studied in a total sample of 252 individuals of three localities of north-west Italy (Postua, Cavaglià and Biella) by PCR test. The frequencies of GSTT1 and GSTM1 "null" genotypes were respectively 7.94% and 34.92%. There are no significant differences between the populations studied in the GSTT1 "null" genotypes. On the other hand, for GSTM1 the frequency of gene deletion in Postua (25.5%) differs significantly (p < 0.01; chi-square test) from that of Biella (46.32%), which approaches the values indicated by most studies for Europeans (about 50%). The analysis of the frequencies of GSTT1 and GSTM1 polymorphisms among different age groups showed a lower frequency of negative genotypes in the older group, although not statistically confirmed.

Polymorphic Alu insertions in five North-West Italian populations.

We analyzed the frequencies of eight human polymorphic Alu insertion loci in population samples from five towns in North-West Italy: Postua, Cavaglià, Biella, Torino, and Genova. All loci under scrutiny were found to be polymorphic in all samples, with the two exceptions of locus A25 in Postua, which was fixed for the absence of the Alu element, and APO in Genova, where the Alu insertion was fixed. Heterozigosity values were highly variable in all loci. F(ST) values for all loci indicate that most of the variability is found within populations, while between population variability is lower. In the multidimensional scaling (MDS) analysis plot, the studied populations are separated from the main group represented by European populations. The Postua sample is set apart also from neighboring towns as Cavaglià and Biella, confirming previous observations of the demographic isolation of this population.

ACE and LRPAP1 insertion-deletion polymorphisms in a northern Ivory Coast population.

The ACE and the LRPAP1 gene insertion-deletion polymorphisms were determined in 133 healthy individuals sampled from Ouangolodougou, a village located in northern Ivory Coast. No sex differences were found in ACE and LRPAP1 gene frequencies. The ACE insertion and deletion alleles had frequencies of 0.346 and 0.654, respectively. The ACE gene was not in Hardy-Weinberg equilibrium because of an excess of heterozygote genotypes and a deficiency of I/I genotypes compared to the expected values. Statistical analysis showed a significantly lower frequency of I/I genotypes in the Ivory Coast population compared to Sudan, Kenya, African Americans, and African Brazilians (p < 0.05), whereas no differences were found with respect to Somalia. Conversely, the frequencies of the insertion and deletion alleles in the Ivorian population did not differ from those of other African populations. The LRPAP1 insertion and deletion allele frequencies found in our study (0.192 and 0.808, respectively) did not differ significantly from the Czech and Spanish populations, the only two populations previously characterized for this polymorphism. However, the frequency of the I/I genotype was significantly lower than the frequencies observed in the European samples. Because of the limited information on the LRPAP1 gene polymorphism distribution in worldwide populations, it was not possible to draw any conclusion.

Clinical usefulness of a new portable oxygen concentrator.

Thirty chronic, hypoxaemic patients with a mean arterial oxygen tension (PaO2) of 6.81 kPa (SD 0.56) in air were tested using the Travelair. The study was performed at rest, allowing the patients to breathe in the following conditions: a) compressed air; b) continuous oxygen flow from the concentrator; c) oxygen from the concentrator in demand-valve mode (DV) with an activation time (AT) of 375 ms; d) DV with AT of 750 ms; e) DV with AT of 1,125 ms; f) DV with AT 1,500 ms; and g) continuous oxygen from the hospital outlet at 2 l.min-1. The mean (SD) SaO2% values at each consecutive step were: a) 87.2 (5.0)%; b) 93.0 (3.0)%; c) 93.9 (2.8)%; d) 94.2 (2.5)%; e) 94.0 (2.7)%; f) 94.1 (2.7)%; and g) 94.8 (2.4)%, respectively. Each of the results obtained with DV (b-f) was statistically different from those obtained breathing air (a) or oxygen (g). The mean (SD) respiratory rates at each consecutive step were: a) 21.2 (4.1); b) 21.0 (4.0); c) 21.3 (4.0); d) 21.0 (3.6); e) 20.7 (3.4); f) 21.0 (3.8); and g) 21.2 (3.8) breaths.min-1, respectively. No relationship was found between the mean oxygen saturations and the mean respiratory frequencies of the patients in each condition tested. With the concentrator on demand, the average of the best SaO2% obtained by the patients in whatever of the four DV activation time modes (conditions c-f) was 94.8 (2.4)%, and no statistical difference was detected between this result and the SaO2% obtained with 2 l.min-1 of continuous oxygen.