Papers by Eduardo Raimondi
Philosophical transactions of the Royal Society of London. Series B, Biological sciences, Jan 19, 2012
The human leucocyte antigen (HLA) system shows extensive variation in the number and function of ... more The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products. In spite of these differences, the homozygosity levels are comparable in almost all of them. The balanced distribution of HLA alleles is consistent with overdominant selection. The genetic distances between outbred populations correlate with their geographical locations; the formal genetic distance measur...
Forensic Science International: Genetics Supplement Series, 2009
Forensic Science International: Genetics Supplement Series, 2008
A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group with a PCR ... more A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group with a PCR multiplex for X chromosome STRs. Markers were selected among those described as polymorphic in humans and that have been used by some laboratories in forensics. Primers and various technical methods were investigated with the aim of optimizing a multiplex for the 10 selected X-STRs. Primer mix stock solutions were sent to the laboratories that were asked to analyse two female bloodstains, taking as reference the genetic profiles from 9947A, 9948 and NA3657 samples. In this work, we report the results obtained by 30 GEP-ISFG laboratories, using this Decaplex, as well as alternative technical conditions that also produced good results.
PLoS ONE, 2012
The statistical interpretation of the forensic genetic evidence requires the use of allelic frequ... more The statistical interpretation of the forensic genetic evidence requires the use of allelic frequency estimates in the reference population for the studied markers. Differences in the genetic make up of the populations can be reflected in statistically different allelic frequency distributions. One can easily figure out that collecting such information for any given population is not always possible. Therefore, alternative approaches are needed in these cases in order to compensate for the lack of information. A number of statistics have been proposed to control for population stratification in paternity testing and forensic casework, Fst correction being the only one recommended by the forensic community. In this study we aimed to evaluate the performance of Fst to correct for population stratification in forensics. By way of simulations, we first tested the dependence of Fst on the relative sizes of the sub-populations, and second, we measured the effect of the Fst corrections on the Paternity Index (PI) values compared to the ones obtained when using the local reference database. The results provide clear-cut evidence that (i) Fst values are strongly dependent on the sampling scheme, and therefore, for most situations it would be almost impossible to estimate real values of Fst; and (ii) Fst corrections might unfairly correct PI values for stratification, suggesting the use of local databases whenever possible to estimate the frequencies of genetic profiles and PI values.
Transplantation Proceedings, 1998
Transplantation, 1997
We found Dr. Schanz's article (1) on the additional effects of intravenous immun... more We found Dr. Schanz's article (1) on the additional effects of intravenous immunoglobulins (IVIg) on human T lymphocyte alloproliferative response in vitro highly interesting. Schanz et al. suggest that clinical studies should be performed not only in allogeneic bone marrow ...
Transplantation, 2001
Background. The aim of this study was to compare the effectiveness of intravenous immunoglobulin ... more Background. The aim of this study was to compare the effectiveness of intravenous immunoglobulin (IVIg) versus monoclonal anti-CD3 as a treatment for steroid-resistant rejections. From January 1995 to June 1997, 30 patients were analyzed. They were randomized into two groups. Resistant rejections were diagnosed by core biopsy. Group A received 500 mg/ kg/day IVIg (Sandoglobulin) for 7 consecutive days, whereas group B received 5 mg/day of OKT3 for 14 consecutive days. Daily T cell CD3 ؉ peripheral count was performed for 14 days for group B. The immunosuppression was similar for both groups. Cyclosporine was stopped during both treatments. Methods. Demographic factors, HLA mismatch, creatinine levels before and after treatment, and the incidence of rejections after treatment (up to 1 month) were taken into account for this study. Results. Data from different samples were compared using Fisher's exact test. Graft and patient survival were analyzed using the Kaplan-Meier method. The were no significant differences found in age, graft origin, HLA mismatch, or time of follow-up until the episode of rejection. Success was achieved for 11 (73.3%) of 15 of group A and 13 (86.6%) of 15 of group B (P.)97.0؍ Creatinine levels before and after treatment were as follows: A, 2.99؎1.30 mg/dl and 2.1؎0.70 mg/dl versus B, 3.1؎1.1 mg/dl and 2.5؎0.8 mg/dl. Besides, we did not observe differences in the creatinine 1 month after treatment (A: 2.35؎0.78 mg/dl; B: 2.51؎1.10 mg/dl; P)66.0؍ nor in the third month (A: 1.83؎0.58 mg/dl; B: 2.30؎0.89 mg/dl; P.)42.0؍ The incidence of rejections after treatment was 5 (46%) of 11 for group A and 9 (75%) of 12 for group B (P.)4.0؍ The patient survival rates 2 years after treatment were 87 and 92% for A and B groups, respectively. Graft survival was identical (80% in both groups). Conclusion. Should the favorable result presented in this report be confirmed in larger number of patients, IVIg could become the preferable choice of rejection treatment for steroid-resistant rejection because of a complete absence of the unwanted side effects commonly associated with OKT3.
International Journal of Legal Medicine, 2008
In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), ... more In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378,
International Journal of Legal Medicine, 2009
A simulation-based analysis was carried out to investigate the potential effects of population su... more A simulation-based analysis was carried out to investigate the potential effects of population substructure in paternity testing in Argentina. The study was performed by evaluating paternity indexes (PI) calculated from different simulated pedigree scenarios and using 15 autosomal short tandem repeats (STRs) from eight Argentinean databases. The results show important statistically significant differences between PI values depending on the dataset employed. These differences are more dramatic when considering Native American versus urban populations. This study also indicates that the use of Fst to correct for the effect of population stratification on PI might be inappropriate because it cannot account for the particularities of single paternity cases.
International Congress Series, 2006
A genetic comparison study was conducted between populations from different regions of Argentina ... more A genetic comparison study was conducted between populations from different regions of Argentina in order to determine if a pooled population STR database could be used for general forensic purposes. Samples were from urban populations of six geographically distant provinces of Argentina (
International Congress Series, 2006
H4) were analyzed in two Native American populations, namely, Tobas (N = 49) and Collas (N = 29),... more H4) were analyzed in two Native American populations, namely, Tobas (N = 49) and Collas (N = 29), settled in the North and Northwest regions of Argentina, respectively. Standard diversity indices and haplotype frequencies were estimated. Genetic distance between both population was estimated by mean of Fst (Rst) test. Statistical tests were performed using Arlequin software Ver 2.000. Thirtythree and fifteen different complete haplotypes were observed for the Tobas and Collas, respectively. Haplotype diversity was 0.9769 F 0.01 for Tobas and 0.9497 F 0.02 for Collas. A new variant, present in thirteen individuals, was identified at DYS385 loci in Tobas. At DYS448, two alleles were found in two samples from Toba population and in one sample from Collas. No shared haplotypes were found between the two populations. A significant Fst value of 0.1466 was obtained in the pairwise comparison between the two populations (P = 0.00 F 0.0).
International Congress Series, 2003
In the past few years, short tandem repeat (STR) typing has become the method of choice for many,... more In the past few years, short tandem repeat (STR) typing has become the method of choice for many, if not most, laboratories to perform paternity testing. The aim of this study was to show that a set of carefully chosen and well-known STR loci may provide as reliable results as Restriction Fragment Length Polymorphism (RFLP) typing does. We analyzed the Paternity Index (PI) and Residual Paternity Index (RPI) obtained in 67 non-exclusion cases and 22 exclusion cases typed by 10 STR loci, and in 61 non-exclusions and 14 exclusions typed by four RFLP loci. PI was calculated for the trios and also for child and alleged father in motherless cases using local frequency tables and it was assigned to one out of six categories. The 10 STR locus analysis for paternity testing led to conclusive results for all trio cases. In paternity tests lacking a mother, more than 10 STRs should be analyzed to get similar results.
International Congress Series, 2003
Ten Short Tandem Repeat (STR) loci, CSF1PO, TPOX, THO1, D12S1090, D3S1744, D18S849, FGA, D7S820, ... more Ten Short Tandem Repeat (STR) loci, CSF1PO, TPOX, THO1, D12S1090, D3S1744, D18S849, FGA, D7S820, D1S533 and D9S304, were analyzed in a population geographically located at the foot of the Andes Range in the province of Neuquen, southwestern Argentina. Allele frequencies and paternity and forensic parameters (power of exclusion, matching probability, and power of discrimination) were calculated for all 10 STR loci. The population was analyzed for Hardy-Weinberg equilibrium (HWE) and allelic and gene frequencies were compared to those observed in the Buenos Aires population. Results indicate that the population was in HWE for these 10 STR loci. Significant differences between allele and genotype frequencies were found for the D7S820 locus (gene and genotypic differentiation test) when compared with data of the Buenos Aires population. These data indicate that the allele frequency estimations can be used to reliably calculate likelihood ratios for paternity and forensic DNA casework.
Immunogenetics, 1993
Because the sequence variations that characterize the DR4 subsets can also be found in alleles be... more Because the sequence variations that characterize the DR4 subsets can also be found in alleles belonging to other families, group-specific amplification was developed to identify them by hybridization with sequence specific oligonucleotide probes (Gao et al. 1990). This approach to DNA typing was used in the collaborative experiments of the 1 lth International Histocompatibility Workshop (Stastny and Kimura 1991). In the workshop data, a variant, similar to DRBl*0411 but different in codon 86 was found in ten donors. This variant was initially called DRB1 *4.12, later DRB1 *04SAM, and now, officially, DRB1 "0417. The designation DRB1 "0412 was assigned by the HLA Nomenclature Committee to an allele called 4AB2, found by Gao and Serjeantson (1991) in Australian aborigines. (Probe sequence used and DR4 subtype hybridization patterns available to interested investigators upon request.) In a study of three Indian tribes (Eastern Toba, Mataco, and Toba Pilaga) from Gran Chaco in North East Argentina, we have found that DRBI*0411 and the new allele DRBl*0417 were the most frequent alleles of the DR4 family (Cernfi et al. 1993). We have sequenced DRBI*0417 from a homozygous subject from the Toba tribe. The polymerase chain reaction (PCR) products obtained with the DR4-specific 5' primer PSP-25 (DRB1 : 6-13 : GT TTC TTG GAG CAG GTT AAA C) and the DRB common 3' primer PSP-49 (DRB1 : 87-94 :G CCG CTG CAC TGT GAA GCT CTC) were visualized in agarose electmphoresis and purified using Geneclean (Bio 101, La Jolla, CA). The DNA obtained was ligated into a PCR 1000 vector and used to transform competent Escherichia coli using a TA-Cloning kit (Invitrogen, San Diego, CA). Transformed colonies were identified by hybridization with sequence-specific oligonucleotide probes. Six positive clones were selected for sequencing by the dideoxy chain-termination method (Sanger et al. 1977) with 35-S labeled dATP and sequenase (US Biochemicals, Cleveland, OH). The nucleotide sequence obtained, codon 13-86, is shown in Figure 1. DRBI*0417 is different from DRBI*0411 in codon 86, from DRB1 *0407 in codon 57, and from DRB1 *0405 in codon 74. The differences are 2, 3, and 1 nucleotides, respectively (Marsh and Bodmer 1993), and could have resulted from gene conversion. Considering that DRB1 "0417 has not been found anywhere but in the Indian tribes in the Gran Chaco region of Argentina, it seems possible that it originated there. Since DRBI*0411 has been observed in Australia, but not in North American Indians, the possibility has been suggested that it arrived in South America through a Pacific Ocean crossing from Oceania (Cerng et al. 1993).
Human Immunology, 2009
The presence of specific antibodies for HLA has a decisive role in the outcome of organs transpla... more The presence of specific antibodies for HLA has a decisive role in the outcome of organs transplant. The detection of donor HLA specific antibodies before transplant and its production of de novo post transplant with Luminex technology are very useful for the monitoring of patients outcome.This study displays the results of four patients with different clinical evolutions using Luminex DSA, in order to detect IgG antibodies specifics to donor class I/II in the pre and post transplant samples. In order to show the utility of these new methodologies in post transplant monitoring we correlated the results obtained with the clinical evolution of the patients. Methods: For the determination of presence of anti donor antibodies, we used the Luminex methodology Tepnel Lifecodes-DSA, and Tepnel Lifecodes LSA class I/class II for the specificity anti HLA of the antibodies detected. Results: The results are displayed in Table 1
Human Immunology, 1993
We have studied the HLA class II alleles in 277 South American Indians, which included Argentinia... more We have studied the HLA class II alleles in 277 South American Indians, which included Argentinian tribes from the Gran Chaco: Toba (n = 135), Toba-Pilaga (n = 19), Mataco-Wichi (n = 49), and Xavantes, a tribe from Central Brazil (n = 74). In the Brazilian tribe, only four DR groups were found: DRB1*1602 (gf = 0.303), DRB1*04 including DRB1*0404 (gf = 0.070) and DRB1*0407 (gf = 0.077), DRB1*0802 (gf = 0.265), and DRB1*1402 (gf = 0.303). The HLA class II allele frequencies were similar among the different Argentinian tribes, and 90% of DRB1 alleles belonged to three families: DRB1*04 (including DRB1*0403, DRB1*0404, DRB1*0407, DRB1*0411, and DRB1*0417), DRB1*0802, and DRB1*14 (including DRB1*1402 and DRB1*1406). At the DPB1 locus, we found only seven alleles, the most frequent being DPB1*0402. Comparison of HLA class II alleles with those of North American Indians that we have previously studied shows that the frequency of some HLA class II alleles in Brazilian Xavantes resembles that of North American Indians more than that of the Argentinian Indian tribes. The allele DRB1*0417 was found exclusively in this population.
Human Immunology, 2007
HLA antibodies have been a major obstacle for transplanting highly sensitized patients. Improved ... more HLA antibodies have been a major obstacle for transplanting highly sensitized patients. Improved technologies, like Luminex, allow the identification of unacceptable HLA antigens (UA) and may be used to predict crossmatch (CM) outcomes. In many transplant centers in Argentina panel reactive antibodies (PRA) do not include specificity identification.Thus, transplant programs cannot exclude sensitized patients by UA in deceased donor workups. Recently, we have began to use Luminex testing to define HLA antibody specificities.In order to assess our ability to identify UA, we conducted a study to correlate final CM results with previously determined HLA antibody specificities. Methods: We retrospectively analyzed the results of 51 CMs of 21 patients on kidney transplant waiting list (PRA mean value: 43%, range 7-90%). All sera were tested with Single Antigen beads (Luminex-Tepnel) for HLA-Class I and Class II antibody specificities. Final CMs were made by CDC for B and T cell. Results: We observed 34 true positive CMs (positive CM in presence of HLA specific antibody), 13 true negative CMs (negative CM without HLA specific antibody), 4 false negative CMs and no false positive CMs. The results showed a 92% accuracy in predicting the final CM outcome. Conclusions: Our results showed that this new technology can predict successfully the final CM outcome. The discrepant results observed were most likely due to the higher sensitivity of the single antigen test compared to the CDC crossmatch, and the presence of low titer donor specific antibodies. Based on these results, we could eliminate unnecesary positive CM.
Human Immunology, 1994
Polymorphlsms outside the hypervanable regions of HLA class II alleles that do not affect the pep... more Polymorphlsms outside the hypervanable regions of HLA class II alleles that do not affect the peptlde-bmding site are probably not under selective pressure and could therefore be useful as markers of the evolutionary pathways of the HLA class II haplotypes We have analyzed such a polymorphism in the variants of DQAI*03, which differ at residue 160 encoded in exon 3 Our study included homozygous BCLs of the 10th IHWS and samples of a multiracial panel of 723 unrelated sublects which were also typed for allehc variations m exon 2 by hybridizatmn with SSOP BCLs having DQAI*03 and 131 selected DQAl*03-positIve samples were typed for the dimorphlsm m exon 3 that distinguishes DQAI*0301 and DQAI*0302 DQAI*0301 was found to be exclusively associated with DQB 1"0302, while samples carrying DQBI*0201, 0301, 0303, and 0401 always had DQA 1"0302 A few haplotypes carrying DQBI*0302 had DQAI*0302 The fact that DQA 1"0301 is completely mcluded In DQB 1"0302, and not vice versa, suggests that DQA 1"0301 may have arisen from a mutation in a haplotype contaming DQA 1*0302-DQBI*0302 DQBI*0302 was found to be assocmted with all DR4 subtypes, suggesting possibly that the current variants of DRB 1-DR4 may be of more recent origin DRB 1"0405 was the only subtype of DR4 which was not associated with DQAI*0301 and had multiple associations with the DQB 1 alleles, therefore, perhaps representing the oldest allele of this group Human Immunology 39 290-298 (1994) ABBREVIATIONS BCL B-cell line IDDM msuhn-dependent diabetes melhtus IHWS International HIstocompatibillty Workshop PCR SSOP 2D-IEF polymerase chain reaction sequence-specific ollgonucleotIde probe two-&mensional Isoelectrlc focusing
Human Immunology, 1992
American Indians orginated from multiple-founding bands of huntergatherers of Mongoloid race who ... more American Indians orginated from multiple-founding bands of huntergatherers of Mongoloid race who migrated to America via the Bering Strait 20,000-25,000 years BC. We have studied the HLA class II alleles in 277 South American Indians which included Argentine tribes from the Gran Chaco: Toba (N=135), Toba-Pilaga (N=19}, Mataco-Wichi (N=49} and Xavantes, a Brazilian tribe from the tropical forest (N=74). In the Brazilian tribe only four DR groups were found: DRB1*1602 (gf=0.305), DRBI*04 including DRBI*0404 (gf=0.070) and DRBI*0407 (gf=0.075), DRBI*0802 (gf=0.265) and DRBl*1402 (gf=0.305). In the Argentine tribes allele frequencies were similar among these populations. 90% of DRBI alleles belonged to three families: DRBI*04 (including DRBI*0403, DRBI*0404, DRBI*0407, DRBI*0411 and DRBI*4.12), DRBI*0802 and DRBI*I4 (including DRBI*I402 and DRBI*I406). Almost all DRBI*I6 alleles were associated with DQAI*0501 DQBI*0301; DRBI*04 alleles with DQAI*0301, DQBI*0302; DRBI*08 alleles with DQAI*0401, DQBI*0402; and DR14 alleles with DRB3*0101, DQAI*0501, DQBI*0301. At the DPBI locus we found only seven alleles, the most frequent was DPBI*0402. Comparison of HLA alleles in South American Indians with those in North American Indians (Fernandez-Vina MA et al.) shows the class II distribution in Brazilian resembles more those in North American than those in Argentine Indians. DRBI*0411, DRBI*4.12 and DRBI*I406 predominated in Argentines. DRBI*4.12 was found only in this population and resembled DRBI*0411 but with 86-glycine instead of valine. DRBI*0411 was found in Latin America (Fernandez-Vina MA et al.) and Australian aborigines (Gao X et al.). A commonly held view is that there were several migratory movements in South America: i.) Along the Pacific coast and the Andes to the South and possibly also Pacific crossing with landing on the West coast; and 2.) one or more routes to the Upper and Middle Amazon. The possibility that HLA genes might reflect such differences is intriguing.
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Papers by Eduardo Raimondi