Biomedical subjects
Publications and source records attributed to G Angelini.
The Molecular Probe Data Base (MPDB) is designed to collect and make available on-line information on synthetic oligonucleotides. This paper briefly describes the purpose of MPDB, its content and structure, forms and mode of data distribution, and a series of additional services available to scientists using MPDB.
In the present study, HLA-A, B, C, DR, DQ, and DP loci were analyzed in a group of Mataco Amerindians of Argentina. Using reagents from the 11th International Histocompatibility Workshop (11th IHW), class I specifities such as Bw70, Bw75, and Bw48 were found in this population, other than the HLA determinants commonly described in South American Indians. The class II antigens found were DR4, DRw14, and DRw8 at the DR locus, and DQw4 and DQw7 at the DQ locus. The analysis of DRB1-DR4 related alleles, performed by PCR amplification and oligonucleotide probe hybridization, showed the presence of DRB1*0403, *0404, *0405, and *0411 in individuals from this ethnic group. By the analysis of DRB1-DRw14 related alleles, two variants were found: DRB1*1402 and DRB1*1406, the latter provisionally called DRB1 14.6 in 11th IHW. The DRw8-related allele present was DRB1*0802. The analysis of DRB3 gene revealed only the presence of DRB3*0101 allele in DRw14 individuals. DPB1 locus was also analyzed in unrelated individuals of the same population. Only five DPB1 alleles were found: DPB1*0201, *0301, *0402, *0501, and *1301 over the 19 previously described in the literature. These findings emphasize the restricted HLA class I and II variation observed in this ethnic group as it has been previously shown in other American groups. Some particular haplotypes in this Mataco tribe are described in this work.
We analyzed the distribution of DRB1, DQA1, DQB1, and DPB1 allelic variants in 48 rheumatoid arthritis (RA) patients, compared with 109 Italian random controls, using PCR amplification and hybridization with specific oligonucleotides. We confirm the previously reported increase of DR4 specificity, in comparison with healthy Italian individuals. In particular, we find a statistically significant positive association of DRB1*0401 and DRB1*0404 alleles with RA. However, when we compare the DR4+ groups, none of the DRB1*04 alleles is increased in the RA group. By sequence analysis, performed on 10 patients, we demonstrate that the DRB1*04 genes of RA show no difference from the DRB1*04 sequences previously published. From the molecular analysis of the other DRB1 polymorphic variants, we find a trend of positive association of DRB1*0101 in DR4-negative patients versus DR4-negative healthy controls and, in the group of DR4-negative and/or DR1-negative patients, a similar increase of DRB1*06. Also, we observe in RA patients a statistically significant increase of DQA1*0301 and DQB1*0302 accompanied by a significant decrease of DQA1*0201, DQA1*0501 and DQB1*0201. Finally, from the analysis of DPB1 gene, it can be assessed that the distribution of DPB1 alleles does not differ significantly between RA patients and healthy controls.
The results of 7 months of patch testing with a standard series of 26 allergens in 323 children with eczematous conditions or itching palmoplantar psoriasis under the age of 14 years are reported. 114 (35.3%) of the children had 1 or more positive reactions to this standard series. 28 children (8.7%) were polysensitive. On the basis of personal history, additional series of allergens and/or specific allergens were also tested. 61.7% (90/146) of positive reactions were considered relevant to the current dermatitis. Metals, medicaments, preservatives or fragrances, and shoe components were the major sources of contact sensitization. It is suggested that patch testing be done more frequently in evaluating dermatitis in children.
A multicenter study was performed in 9 Italian centers by members of the GIRDCA, to evaluate the frequency and source of contact sensitization in a group of 302 hairdressers with dermatitis. Occupational habits and use of preventive measures were specifically investigated both in these 302 hairdressers and in a further group of 240 hairdressers who answered a questionnaire. The results showed the presence of an occupationally relevant sensitization in 60.9% of the 302 hairdressers. This proportion included 52 hairdressers who had negative patch tests to the hairdressers' series but showed positive reactions to other allergens, such as nickel, rubber additives, preservatives and fragrances, which were judged relevant to their occupation. Among hair dyes, PPD caused 73 reactions (24.2%), PAP 32 reactions (10.6%), ONPPD 24 reactions (7.9%), and PTD 40 reactions (13.2%). A low incidence of sensitization was detected in our hairdressers to resorcinol and pyrogallol (1.3% for each substance). Among permanent wave allergens, positive reactions to GMTG were found in 11.3% of patients, while ATG gave a lower rate of positive reactions (5.0%). Allergic contact dermatitis due to APS was also relatively common (11.3%). 4 hairdressers in this study gave a positive reaction 30 min after a provocative test with latex gloves, patch testing to the rubber series being negative. Enquiry regarding preventive measures revealed that the majority of hairdressers use gloves when doing hair dyeing, but rarely use them for washing dyed hair or for doing permanent waving. The infrequent use of preventive measures by Italian hairdressers was confirmed by the results of the questionnaire, and possibly explains the high frequency of skin problems (12.5%) in the hairdressing population that was specifically interviewed.
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In the present report, we describe a DNA typing method that allows detection of all the polymorphic variants of DQA1 and DQB1 second exons. By the oligotyping procedure provided in this paper, we are able to identify 8 DQA1 and 13 DQB1 alleles and to type random individuals in any heterozygous combination. We provide the hybridization and washing temperatures for using either 32P labelled or non-radioactive probes. The discrimination power of this procedure, compared to serological and cellular techniques, is remarkable. Therefore, this typing method finds perfect application in transplantation immunology and it will be very helpful to optimize the matching of unrelated donors before BMT. It is apparent from our results that despite the linkage disequilibrium present between DQ and DR loci, a DR specificity may frequently be associated to different DQ haplotypes. This is the case for DR4, DR7, DR8, DR9, and DR13 specificities.
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In order to ascertain whether the HLA-DP locus plays a role in the genetic predisposition for systemic lupus erythematosus (SLE), 42 patients with SLE were typed for 17 different DPBeta haplotypes by locus specific amplification followed by allele specific oligonucleotide hybridization. Sera from the same patients were assayed for the presence of autoantibodies to Sm, RNP, Ro, La and of anticardiolipin antibodies (aCL). DPB1*0301 and DPB1*1401 were increased in patients compared with 107 healthy controls, mainly in those anti-Sm/RNP positive and aCL positive. Remarkably, DPB1*1401 and DPB1*0301 have a nearly identical nucleotide sequence, suggesting that an epitope shared by their membrane products is of major importance for the DP related susceptibility to SLE.
Allergic asthma (AA) is a multifactorial disease in which the IgE hyperresponsiveness to mite allergens is determinant for its pathogenesis and clinical picture. We have reported previously that IgE responsiveness to mite allergens in AA patients is linked to HLA and possibly controlled by a dominant suppression (Is) gene of that region. The present population study was done to detect alleles involved in the genetic control of mite IgE response that accompanies AA, using polymerase chain reaction and oligonucleotide DNA typing of DP locus. Instead of finding any significant positive association with AA, in this study we found that the allele DPB1*0401 is present mainly in the nonallergic control population and strikingly absent in patients (p less than 0.008), suggesting that this gene could confer resistance to AA and other atopic diseases. Our results add more evidence regarding the existence of Is genes in the HLA region involved in the control of IgE immune response to environmental allergens. Furthermore, they suggest that genes of HLA are important genetic components involved in the etiology of AA.
Susceptibility to coeliac disease is strongly associated with some HLA class II antigens, encoded by the HLA-D region. Since the HLA-DQ locus seems to be primarily involved, we have analysed by polymerase chain reaction amplification and allele-specific oligonucleotide hybridization the most polymorphic region of the HLA-DQ A1 gene. No difference was observed between the 20 coeliac patients and 20 HLA-D-matched healthy controls who took part in the study. Furthermore, in patients and controls, the restriction fragment length polymorphism analysis of the HLA-DQ A gene using the restriction enzyme BglII did not disclose any specific disease-associated fragment. Our results are not consistent with a unique DQ A coeliac disease-associated sequence, but rather with the hypothesis that some polymorphic residues or allelic hypervariable regions, although found also in the normal population, can predispose to coeliac disease due to their higher frequency in this condition.
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A series of 52 serum samples from chronic HBsAg carriers was tested for the presence of HBV-DNA by means of the Polymerase Chain Reaction (PCR) and Liquid Phase Hybridization (LPH). The samples were obtained from two groups of patients: group A included 34 chronic HBsAg carriers ("healthy" individuals) without hepatocytolysis or viral replication; group B included 18 chronic HBsAg carriers with signs of hepatocytolysis (ALT levels at least twice the normal value) and activated markers of viral replication. PCR was superior to LPH in group A, with 7/34 versus 5/34 positive samples being detected, respectively. No difference in sensitivity was found between the two techniques in group B, since 9/18 samples were positive both cases. The data stress the need to adopt PCR for the HBV-DNA screening of HBeAg-/HBsAg+-carriers.
The results of a retrospective study on the personality traits of a patient with cancer are reported. The research was carried out on a group of cancer patients and on 2 control groups, one consisting of carriers of chronic non-tumoral disease, the other of patients with acute accidental pathology. Statistical processing of the data obtained has permitted the detection of interesting personological details in the 3 groups studied.
This study analyses the physical and physiognomic semiotics characteristic of anxious persons which, together with other symptoms, lead to the diagnosis of the disorder caused by anxiety. The theories of several authors concerning physiognomy, an ancient science based on the assumption that an individual's character and personality traits may be distinguished from his physical form and appearance, are discussed. It is clear that the symptoms apparent in the behaviour and body of the anxious person, such as tremor, sweating, tachycardia and numerous other psychosomatic symptoms, form an important element of assessment in psychiatric diagnosis.
A panel of homozygous cell lines, previously typed by primed lymphocyte test for their DPw specificity, have been studied by restriction fragment length polymorphism analysis, using a DP beta-specific probe. Highly stringent hybridization and washing conditions were used to prevent cross-hybridization with DR- and DQ-specific fragments. Three out of six enzymes employed allowed us to distinguish clustered or single DPw specificities, and by MspI digestion it was possible to detect different patterns within a single specificity such as DPw4. Some of the cell lines have been further studied with synthetic oligonucleotides derived from the polymorphic regions of the second exon of DP beta 1 gene, and, in general, a correlation with the primed lymphocyte test--defined specificities and restriction fragment length polymorphism was found. These data suggest a more extended complexity of the DP region, in addition to that defined as the DPw1-DPw6 segregant series.