bluuebunny/crossref_metadata_2025_split huggingface dataset:
EVIDENCE THAT DERIVATION OF THE ADENOCARCINOMA LT85 PREDATED ESTABLISHMENT OF THE H‐2km2 MUTATION IN A C3HF COLONY OF MICE
Authors: Vogel J. M. , McMillan M. , Martin W. J. , Goodenow R. S. 
Published: April 2007

SUMMARYThe adenocarcinoma LT85 was chemically induced in a mouse from a C3Hf colony shown subsequently to be inbred for a gene conversion‐like mutation at the H‐2K locus, characterized by a clustered four nucleotide substitution in exon 3. The H‐2K phenotype of LT85, however, more closely resembles that of C3H rather than the mutant strain now designated C3Hf H‐2km2. We cloned and sequenced the H‐2K gene from this tumor to determine whether (i) LT85 might carry a tumor‐associated somatic reversion of the H‐2Kkm2 germline mutation or (ii) the tumor was induced in a mouse that was genetically H‐2k rather than H‐2km2. Our analysis confirmed that the LT85 H‐2K allele is identical throughout the entire coding region to C3H H‐2Kk. To exclude the possibility of a somatic reversion by recombination, we used an oligonucleotide probe corresponding to the region altered in H‐2k to show that the C3Hf genome lacks the necessary coding information to reverse the H‐2Kkm2 mutation through a sequence exchange with another class I locus. Since it is unlikely that multiple independent point mutations would account for restoration of this stretch of H‐2Kk sequences, the tumor was probably established in a mouse carrying a normal H‐2Kk allele, possibly at a point prior to the establishment of the H‐2Kkm2 mutation as a homozygous trait within the C3Hf colony.
MODULATION OF MHC GENE EXPRESSION IN HUMAN BREAST CARCINOMA CELLS BY HORMONES
Authors: Teh M. , Hui K. M. 
Published: April 2007

SUMMARYProducts encoded by the class I Major Histocompatibility Complex (MHC) genes serve as restriction molecules which enable T cells to generate an immune response to specific antigens. Recently, many investigators have demonstrated the importance of class I antigens in enabling the host to regulate tumor growth in vivo. In this report, we have studied the regulation of HLA genes by hormones in human breast cancer cell lines. Eight lines were studied. Using HLA locus‐specific DNA probes, the level of HLA‐A and HLA‐B specific mRNAs were found to be under‐represented in six of these cell lines when compared to an epithelial cell line derived from a normal lactating breast. Moreover, the expression of class I MHC mRNA in these cells correlated well with the level of chloramphenicol acetyltransferase (CAT) activity detected after the introduction of exogenous HLA‐CAT DNA‐constructs. It was also found that HLA expression in some of the breast carcinoma cell lines could be modulated by the addition of hormones. Hence, HLA mRNA expression in the cell line MCF‐7 was enhanced by the addition of estrogen; but was down‐regulated in the presence of dexamethasone. Conversely, for T‐47D cells, HLA expression was suppressed by progesterone. These results indicate that hormones could have an influence on the expression of HLA genes and may therefore indirectly be involved in the regulation of tumor growth by the host's immune system.
IL‐6 GENE POLYMORPHISM IN RHEUMATOID ARTHRITIS, PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS, SYSTEMIC LUPUS ERYTHEMATOSUS, AND IN HEALTHY DANES
Authors: Fugger L. , Morling N. , Bendtzen K. , Ryder L. , Andersen V. , Heilman C. , Pedersen F. Karup , Friis J. , Halbert P. , Svejgaard A. 
Published: April 2007

SUMMARYThe restriction enzymes MspI and Bg/II identify two different two‐allele restriction fragment length polymorphisms (RFLP) in the human IL‐6 genes of healthy Danes. Co‐dominant segregation was demonstrated for both marker‐systems and the test for Hardy‐Weinberg equilibrium showed no significant deviation from expectations. There is a strong correlation between the two marker systems. The two IL‐6 RFLP's were studied in Danish patients with rheumatoid arthritis, pauciarticular juvenile rheumatoid arthritis, and systemic lupus erythematosus. The frequencies of the MspI and Bg/II marker phenotypes did not differ between healthy controls and the three disease groups. No extra or missing DNA fragments were observed in the disease groups when compared with controls.
INFLUENCE OF RECOMBINANT INTERLEUKIN‐2 AND α‐ AND γ‐INTERFERONS ON THE INDUCTION OF NOVEL CLASS I ANTIGENS
Authors: Mitsuishi Y. , Fellous M. , Urlacher A. , Mayer S. , Tongio M. M. 
Published: April 2007

SUMMARYPrevious results obtained in our laboratory showed that novel class I antigens, closely related to HLA‐A (TM antigen related to HLA‐A9 and GO antigen related to HLA‐A24), were expressed on activated HLA‐A9 or HLA‐A24 peripheral blood lymphocytes (PBL), whatever activation factor was used [mitogenic stimulation (PHA, PWM, Con A), EBV transformation or alloactivation], but not on resting T and B lymphocytes. These antigens were also expressed on HLA‐A9 or HLA‐A24 common acute lymphoblastic leukaemias (CALL) and some ‘immature’ chronic lymphocytic leukaemias (B‐CLL), but not in hairy cell leukaemias (HCL), most of the B‐CLL, acute myeloblastic leukaemias (AML) and acute myelomonoblastic leukaemias (AMoL). In order to investigate the regulation mechanisms of these novel class I antigens, PBL and different leukaemic cell types were treated in vitro with recombinant IL‐2 (rIL‐2) and α and γ‐interferon (rIFN). Our results showed that without previous activation, but after culture with rIL‐2, TM and GO antigens could be induced in HLA‐A9 or HLA‐A24 PBL and enhanced in HLA‐A9 or HLA‐A24 B‐CLL cases, whereas no expression was found in HLA‐A9 or HLA‐A24 HCL, T‐ALL, AML or AMoL. After culture with rINFs, the expression of TM and GO antigens could be induced on HLA‐A9 PBL and all HLA‐A9 leukaemic cell varieties. Our results support the hypothesis that the expression of class I antigens is induced at an early stage of the cell cycle.
HLA‐B8,DR3 PHENOTYPE AND LYMPHOCYTE RESPONSES TO PHYTOHAEMAGGLUTININ
Authors: Modica M. A. , Cammarata G. , Caruso C. 
Published: April 2007

SUMMARYSeveral reports have shown that HLA‐B8,DR3 positive subjects may display some changes in immune parameters when compared with HLA‐B8,DR3 negative ones and are prone to develop several immunological diseases. In the present study we have analysed the proliferative response to phytohaemagglutin (PHA) in HLA‐typed healthy subjects. A twin method was also employed to assess the role of genetic and environmental factors in the regulation of the response to the mitogen. It was not possible to demonstrate any difference in proliferative response to optimal doses of PHA between groups of subjects carrying or not carrying the HLA‐B8,DR3 phenotype. When suboptimal responses were studied, however, the results showed that ly‐mphocyte responses were significantly decreased in HLA‐B8,DR3 positive subjects compared with the negative ones. Moreover, the experiments performed with twins demonstrated that environmental factors were more important than genetic factors in the proliferative response to mitogen. The fact that the HLA‐B8,DR3 phenotype affects the suboptimal response to PHA although environmental factors are more important than genetic factors in the response to the mitogen seems of some interest. However, these results could be consistent with the high incidence of autoimmune disorders among HLA‐B8,DR3 positive individuals.
INSULIN‐DEPENDENT DIABETES MELLITUS SECONDARY TO CHRONIC PANCREATITIS IS NOT ASSOCIATED WITH HLA OR THE OCCURRENCE OF ISLET‐CELL ANTIBODIES
Authors: Larsen S. , Hilsted J. , Jakobsen B. K. , Svejgaard A. , Marner B. , Worning H. 
Published: April 2007

SUMMARYWe assessed HLA‐DR types and investigated serum samples for islet‐cell cytoplasmic antibodies (ICA) in 31 Danish patients with chronic pancreatitis. The antigen frequencies were compared with those in 1177 unrelated healthy Danish controls. Twenty patients had insulin‐dependent diabetes and 11 had normal intravenous glucose tolerance. No significant differences in the frequencies of DR3, DR4, or DR2 were found between patients with insulin‐dependent diabetes and patients with normal glucose tolerance or between any of these groups and controls. ICA were negative in all patients with chronic pancreatitis. It is concluded that the beta‐cell dysfunction in insulin‐dependent diabetes in chronic pancreatitis differs from that of classical insulin‐dependent diabetes.
THE NATURE AND ABUNDANCE OF HUMAN RED CELL SURFACE GLYCOPROTEINS
Authors: Anstee D. J. 
Published: April 2007

SUMMARYAvailable evidence suggests that there are at least 30 different proteins at the red cell surface. These proteins vary in abundance from a few hundred copies/cell to more than a million copies/cell. Recently, a new Glycophorin gene (Glycophorin E) has been identified and sequenced. In this paper evidence is presented that a monoclonal anti‐M detects the product of the Glycophorin E gene in normal red cells.
SEROLOGICALLY DEFINED Rh DETERMINANTS
Authors: Tippett P. 
Published: April 2007

SUMMARYForty‐six numbered Rh antigens which are detected in serological tests are extant; antigens which were most recently numbered are of high or of low incidence. The identification of high incidence Rh antigens through studies involving cells with rare Rh phenotypes, including Rhnull cells, is described briefly. The serological investigations and family studies required to show that a low incidence antigen is an Rh antigen are illustrated by a description of the JAL (Rh48) antigen. Heterogeneity of polymorphic Rh antigens revealed by using monoclonal antibodies (MABS) is demonstrated by consideration of the Rh antigen D. A summary of results of serological tests shows that monoclonal anti‐D antibodies define eight D epitopes. Partial D antigens of the D categories are reassessed in terms of expression of D epitopes.
REPORT OF STUDIES ON MONOCLONAL ANTI‐IgG ANTIBODIES
Authors: Voak D. , Nilsson U. 
Published: April 2007

SUMMARYEleven monoclonal anti‐IgG antibodies were evaluated by ten laboratories for possible AHG reagent use by the ISBT/ICSH protocol. Three of the anti‐IgGs were selected by tests with weak Fya sensitized cells as this represents the best screening test. One of the IgM class anti‐IgGs (205) equalled ISBT/ICSH reference reagents (R3P and RIIIM) against weak anti‐D, ‐K and Fya sensitized cells and it reacted with all four subclasses of IgG. Thus, subject to satisfactory stability and extended trials with a wide range of weak antibodies, monoclonal anti‐IgGs for AHG reagent use are now a possible alternative to conventional rabbit anti‐IgG.
CHARACTERIZATION OF MHC ANCESTRAL HAPLOTYPES ASSOCIATED WITH INSULIN‐DEPENDENT DIABETES MELLITUS: EVIDENCE FOR INVOLVEMENT OF NON‐HLA GENES
Authors: Christiansen F. T. , Saueracker G. C. , Leaver A. L. , Tokunaga K. , Cameron P. U. , Dawkins R. L. 
Published: April 2007

SUMMARYInsulin‐dependent diabetes mellitus (IDDM) is associated with several DR3‐ or DR4‐containing ancestral haplotypes (AHs). Using pulsed field gel electrophoresis (PFGE), long range maps of 35 haplotypes have been derived and classified. Two diabetogenic DR3‐containing AHs (8.1 and 18.2) possess deletions in the central non‐HLA region; these have not been found on non‐diabetogenic AHs tested to date. In addition, 8.1 and 18.2 also carry other deletions not found on other AHs. Three DR4 containing AH lack a Not 1 site, which may imply excision of an unidentified gene. These and other data suggest that deletions may be relevant to the pathogenesis of autoimmune disease, possibly through causing quantitative differences in autoimmune responses involved in IDDM. The MHC contains several regions of potential interest in relation to susceptibility to IDDM; these may explain the association with only certain DR3‐ and DR4‐carrying AH and DR3,4 heterozygosity in terms of cis and trans interactions. On the other hand, the class I1 region may be particularly important in protection.
EVIDENCE AGAINST EXTENDED DR3‐RELATED HAPLOTYPES IN GRAVES' DISEASE
Authors: Weetman A. P. , McCorkle R. 
Published: April 2007

SUMMARYThree HLA‐DR3‐linked polymorphisms of the DPA, DPB and DRB genes, previously associated with myasthenia gravis or coeliac disease, have been examined in Caucasian patients with Graves' disease. The patients did not differ from healthy DR3 subjects, indicating an absence of any association of Graves' disease with specific DR3 subtypes.
HLA‐DR, DO AND DP TYPING USING PCR AMPLIFICATION AND IMMOBILIZED PROBES
Authors: Erlich H. , Bugawan T. , Begovich A. B. , Scharf S. , Griffith R. , Saiki R. , Higuchi R. , Walsh P.S. 
Published: April 2007

SUMMARYA simple, rapid, and precise method of typing HLA class II polymorphism would be valuable in the areas of disease susceptibility, tissue transplantation, individual identification and anthropological genetics. Here we describe a method of analysing class II sequence polymorphism based on polymerase chain reaction (PCR) amplification and hybridization with oligonucleotide probes. One valuable property of sequence‐based HLA typing strategies, like oligonucleotide probe hybridization, is that they reveal how and where two alleles differ, not simply that they can be operationally distinguished. The nature and location of HLA polymorphisms appears to be critical in disease association studies and are likely to be important in tissue typing for transplantation. New alleles at the DRB1, DPB1 and DQB1 loci are likely to be identified as this technology is applied to more and more samples, particularly in non‐Caucasian ethnic groups. A new allele is uncovered as an unusual pattern of probe binding and then confirmed by sequencing. This pattern is observed because class II polymorphism is localized to specific regions and virtually all ‘new’ alleles have polymorphisms in the region of probe binding. Obviously, any new allele with a new polymorphic sequence in a region for which typing probes are not available would not be revealed by oligonucleotide typing.With the PCR primers and probes described here, 7 DQA1 alleles,* 15 DQB1 alleles, 18 DPB1 alleles, and 32 DRB1 alleles are distinguished. Additional primers and/or probes can, of course, increase the allelic discrimination of oligonucleotide dot blot typing. These horseradish peroxidase (HRP)‐labelled oligonucleotide probes are stable (>2 years when stored at 4°C) and the typing system is simple and robust. Over 500 samples from the CEPH pedigrees (unpublished data; A. B. Begovich, et al., manuscript in preparation) and >1000 unrelated samples have been typed by this procedure. Although this dot blot/oligonucleotide hybridization procedure is a powerful and precise method of HLA class II typing, the complexity of the procedure increases as the number of probes required for analysis increases. The reverse dot blot method, based on an array of immobilized probes, allows the typing of individual samples in one single hybridization reaction. In this approach, a panel of unlabelled oligonucleotides are immobilized to a nylon membrane. The PCR product is labelled during the amplification reaction by using biotinylated primers and hybridized to the membrane. The presence of bound PCR product specifically hybridized to a given probe is detected using streptavidin‐HRP conjugates and either chromogenic or chemiluminescent substrates. This method offers the simplest and most rapid approach to the HLA typing of clinical samples.
HLA CLASS II NUCLEOTIDE SEQUENCES, 1991
Authors: Marsh S. G. E. , Bodmer J. G. 
Published: April 2007

SUMMARYThe HLA class II sequences included in this compilation are taken from publications listed in the accompanying paper, Nomenclature for factors of the HLA system, 1990 (Bodmer et al., 1991), and Nomenclature for factors of the HLA system, 1989 (Bodmer et al., 1990). Where discrepancies have arisen between reported sequences the original authors have been contacted where possible, and necessary amendments to published sequences have been incorporated into this alignment. Future sequencing may identify errors in this list and we would welcome any evidence that helps to maintain the accuracy of this compilation.In the sequence alignments identity between residues is indicated by a hyphen (.). An unavailable sequence is indicated by an asterisk (*). Gaps in the sequence are inserted to maintain the alignment between different alleles showing variation in amino acid number.
ANCESTRAL HAPLOTYPES CARRY HAPLOTYPIC AND HAPLOSPECIFIC POLYMORPHISMS OF BAT1: POSSIBLE RELEVANCE TO AUTOIMMUNE DISEASE
Authors: Degli‐Esposti M. A. , Leelayuwat C. , Dawkins R. L. 
Published: April 2007

SUMMARYThe human BAT1 gene, located in the central MHC region (–170kb centrometric of HLA‐B), is polymorphic and the polymorphism correlates with MHC ancestral haplotypes. Allelic RFLP patterns have been assigned to several ancestral haplotypes and have been shown to be ‘haplotypic’ (i.e. found on all examples of the same ancestral haplotype) and in some cases ‘haplospecific’ (i.e. unique to one ancestral haplotype). The relevance of the BAT1 polymorphism to susceptibility to Myasthenia Gravis (MG) has been investigated. The frequency of the BAT1 B allelic pattern is increased in patients with MG (n= 16) compared to an equal number of control subjects. The increase is due to the association between MG and the 8.1 ancestral haplotype (HLA A1, Cw7, B8, BfS, C4AQ0, C4B1, DR3, DQw2).
DNA TYPING OF HLA‐DQ ALLELES BY GENE AMPLIFICATION OF DQA AND DQB VARIABLE EXONS: ANALYSIS OF DQA/DQB HAPLOTYPES
Authors: Pera C. , Delfino L. , Angelini G. , Longo A. , Ferrara G. B. 
Published: April 2007

SUMMARYIn 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.
ONE‐STEP MOLECULAR HLA‐DR PRESCREENING EMPLOYING A SET OF 14 SEQUENCE SPECIFIC OLIGONUCLEOTIDES IN A NON‐RADIOACTIVE TETRAMETHYLAMMONIUM CHLORIDE HYBRIDIZATION PROTOCOL
Authors: Sorg U. R. , Enczmann J. , Sorg R. V. , Wernet P. 
Published: April 2007

SUMMARYA novel non‐radioactive protocol for molecular generic HLA‐DR typing is introduced, employing sequence specific oligonucleotides (SSOs) enzymatically 3′‐labelled with biotin‐14‐dATP via terminal deoxynucleotidyltransferase in a tetramethylammonium chloride hybridization procedure. The detection reaction is carried out, using streptavidine conjugated horseradish peroxidase which is bound to the SSOs, in combination with a light emitting detection system. Fourteen SSOs and one control SSO are employed for generic HLA‐DR typing in a one‐step protocol. In order to demonstrate the suitability of this procedure, 5 homozygous typing cell lines and samples of 11 pretyped individuals which include most serologically defined HLA‐DR specificities (DR1, 2, 3, 4, 11, 12, 6, 7, 8, 9,10, 52, and DR53) are analysed with the panel of 14 SSOs. The typing results show that this protocol, which avoids the use of radioisotopes, combines high specificity and easy handling. It also allows typing of poorly amplified samples because even after longer exposition times no false positive signals were observed and is particularly suitable for routine molecular HLA‐DR typing on the generic level. In addition it can easily be adapted to DP and DQ typing or DR subtyping.
DIALLELIC POLYMORPHISM MAY EXPLAIN VARIATIONS OF THE BLOOD CONCENTRATION OF MANNAN‐BINDING PROTEIN IN ESKIMOS, BUT NOT IN BLACK AFRICANS
Authors: Garred P. , Madsen H. O. , Kurtzhals J. A. L. , Lamm L. U. , Thiel S. , Hey A. S. , Svejgaard A. 
Published: April 2007

SUMMARYMannan‐binding protein (MBP) is a lectin which, upon binding to certain carbohydrates, activates the classical pathway of complement without the involvement of antibody or C1q. Deficiency of the MBP is associated with an opsonic defect and recurrent infections during early life. An amino acid substitution in the exon 1 at codon 54 in the MBP gene (GGC [glycine] to GAC [aspartic acid]) has been shown to be closely associated with low MBP concentration in Caucasoids. The gene frequency of the mutant allele in this population has been estimated at 0.13. In the study described here, we investigated the association between the mutant allele and MBP protein concentration in Eskimos from East‐Greenland and black Africans from the Baringo District in Kenya. The frequency of the GAC allele was identical in Eskimos and Caucasoids (0.13). No overlap with regard to MBP concentration between the genotypes was found in the Eskimos. In contrast, the Africans revealed a low frequency of the GAC allele (0.009). However, the median MBP protein concentration was approximately 5 times lower among the Africans than the Eskimos. In 12.6% of the Africans and in 2.5% of the Eskimos, MBP was undetectable. Thus, MBP deficiency is the most frequent immunodeficiency so far described. The high prevalence of MBP deficiency among healthy individuals indicates that MBP deficiency also confers some selective advantages. We advance the hypothesis that MBP deficiency is maintained in populations because MBP deficiency decreases the infectivity of some intracellular micro‐organisms which are dependent on opsonization.
COMPLEMENT COMPONENT C4 DEFICIENCIES AND GENE ALTERATIONS IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
Authors: Fan Q. , Uring‐Lambert B. , Weill B. , Gautreau C. , Menkes C.J. , Delpech M. 
Published: April 2007

SUMMARYDeficiency of complement component C4 is considered playing a role in the genetic predisposition for systemic lupus erythematosus (SLE). The purpose of this study was to characterize the genomic alterations of the C4 and CYP21 genes in 40 caucasoid patients with SLE by C4 allotyping and by RFLP analysis. Nineteen patients (47.5%) carried C4A null alleles and eight patients (20.0%) C4B null alleles. SLE patients had more frequent C4A null alleles (47.5%) than healthy individuals (20%) (X2= 10.75; P < 0.005). The commonest molecular alteration in the patients with C4A null alleles was a large gene deletion affecting both C4A and CYP21A genes. However, among the patients with C4A null alleles, 16.7% persons had no detectable C4A deletion. The non‐expression of C4A gene might be due to defects at various levels of gene expression (i.e. transcription and translation).Among the patients with C4B null alleles, 62.5% persons had no detectable gene lesion, whereas 37.5% showed a C4B deletion including both C4B/CYP21A or C4B/CYP21B genes.Duplication of the C4B gene was not rare in SLE patients, as we found 15.0% of the patients with a heterozygous C4B/CY21A gene duplication. The patients typed as having C4B gene homoduplication (B1,1) demonstrated two long C4B loci, whereas heteroduplication (B1,2) displayed two short loci, therefore the type of C4B gene duplication may be related to the gene length.In conclusion, C4 deficiencies observed in 26 of the 40 SLE patients studied were very heterogeneous. In every case, the gene alteration affected both C4 and CYP21 genes.