bluuebunny/crossref_metadata_2025_split huggingface dataset:
AN HLA‐DR TYPING PROTOCOL USING GROUP‐SPECIFIC PCR‐AMPLIFICATION FOLLOWED BY RESTRICTION ENZYME DIGESTS
Authors: Westman P. , Kuismin T. , Partanen* J. , Koskimies S. 
Published: April 2007

SUMMARYA simple PCR‐based protocol for HLA‐DR typing suitable for a routine practice is described. The method involves, first, a PCR amplification with seven different, group‐specific (DR1, DR2, DR4, DR7, DR9, DR10, and DR3+5+6+8) primer‐pairs, and second, typing of HLA‐DR allele more exactly in DR1, DR2, DR4, and DR3+5+6+8 groups by digestion of PCR products with restriction enzymes distinguishing different HLA‐DR types within each of the groups. Altogether 24 HLA‐DR alleles, or any combination of these, can be typed. The whole procedure, starting from a blood sample, can be carried out during a single working‐day. The method was tested by typing a set of homozygous cell lines, as well as a local panel previously typed by PCR/oligotyping. Also, 227 patients waiting for transplantation were typed to test the method in a routine setting. The results suggest that this kind of approach gives reliable HLA‐DR types and works well in the routine use.
QUANTITATIVE EXPRESSION OF HLA CLASS I MOLECULES IN ACUTE NON‐LYMPHOBLASTIC LEUKAEMIA CELLS
Authors: D'Alfonso S. , Savoia P. , Pitti G. , Peruccio D. , Pozzi C. , Crepaldi T. , Falda M. , Ficara F. , Resegotti L. , Richiardi P. Momigliano 
Published: April 2007

SUMMARYThe present study concerns a panel of 33 acute non lymphoblastic leukaemia (ANLL) patients, previously typed for HLA‐A,B serological specificities and including samples with a normal HLA‐A,B phenotype (3,4 detected specificities) as well as samples with missing and extra specificities. Samples were analysed at the protein and/or RNA level in order to verify whether the observed typing anomalies were due to a modified quantitative expression of class I molecules. The number of HLA‐A.B assigned specificities correlated significantly with the cell surface class I expression detected by indirect immunofluorescence using the monomorphic anti‐class I MoAb W6/32 (Spearman rank correlation test, P < 0.01) and with the amount of class I Heavy Chain (HC, P < 0.05) and beta‐2‐microglobulin (β2m, P < 0.05) evaluated by Western blot in whole cell extracts. The RNA analysis suggested a HC‐β2m coordinated down regulation at the mRNA level in a patient with no assigned HLA‐A,B specificities. Another patient with no detectable HLA‐A,B specificities showed a low expression selectively of the β2m protein. The results reported here demonstrate a heterogenous quantitative HLA class I expression in ANLL blasts, analogous to results reported for solid tumours.
GENE FREQUENCY AND LINKAGE DISEQUILIBRIUM ANALYSIS OF HLA‐DRB1*04 HAPLOTYPES IN A SOUTH WALES POPULATION
Authors: Young N. T. , Darke C. 
Published: April 2007

SUMMARYHLA‐DRB1*04 allele frequencies have been determined in 184 HLA‐DR4‐positive unrelated blood donors from the South Wales area, using group‐specific polymerase chain reaction (PCR) amplification and hybridization with sequence‐specific oligonucleotide probes, PCR amplification with sequence‐specific primers, and PCR single‐strand conformation polymorphism analysis.Eight of the fifteen known HLA‐DR4 sequences were detected in this study. Linkage disequilibrium analysis of HLA‐DRB1 *04 and HLA‐B, ‐DR and ‐DQ alleles revealed distinct haplotypic associations for all the major alleles detected in this population, including the novel linkage of HLA‐B55 with DRB1*0407.These results are relevant to the role of HLA‐DRB 1*04 haplotypes in determining allogeneic histocompatibility and disease susceptibility.
SEROLOGICAL IDENTIFICATION OF A NEW HLA‐B7 VARIANT ANTIGEN –HLA‐B7QUI
Authors: Fussell H. , Thomas M. , Street J. , Darke C. 
Published: April 2007

SUMMARYA new HLA‐B antigen, HLA‐B7Qui that appears to be a variant of HLA‐B7 has been identified. This antigen, which is HLA‐Bw6 associated, reacts with approximately two‐thirds of cytotoxic antisera stimulated by HLA‐B7 or B27 that lack a B27 or B7 component, respectively. All anti‐B7+27 antisera (stimulated by either B7 or B27) react with B7Qui as do most B22‐stimulated sera possessing a B7 component. However, sera stimulated by B60, with or without a B7 component, fail to react with B7Qui.Family studies show the B7Qui allele to be unique to the haplotype –HLA‐A32 CW6 B7Qui Bf*S C4A*6 C4B*1 DR11 DQ7 (GL02). Six Caucasoid subjects on the panel of 6861 HLA‐typed potential bone marrow donors have this antigen (phenotype frequency, 0.08745%; gene frequency, 0.04473%). Work undertaken during the 11th International Histocompatibility Workshop (Reekers et al., 1992) showed that B7Qui has the same isoelectric point as HLA‐B702 and HLA‐B703 (Bpot) and that B7Qui is distinct from the HLA‐B7 variants B703, B7SL, BDT, B7x40, BRI, and B41v.
A CLASS I cDNA FROM SPAFAS LINE‐11 CHICKENS
Authors: Pharr G. T. , Bacon L. D. , Dodgson J. B. 
Published: April 2007

SUMMARYA chicken MHC class I (B‐F) cDNA from SPAFAS line 11 embryonic liver tissue was isolated and characterized by nucleotide sequencing. Comparing this sequence with previously described B‐FcDNAs highlights clustered nucleotide substitutions in exon 3, encoding amino acids located on the a‐helical region of the α2 domain.
A NEW PCR‐BASED TYPING OF THE RODGERS AND CHIDO ANTIGENIC DETERMINANTS OF THE FOURTH COMPONENT OF HUMAN COMPLEMEMT
Authors: Barba G.M.R. , Braun‐Heimer L. , Rittner C. , Schneider P.M. 
Published: April 2007

SUMMARYThe Rodgers (Rg) and Chido (Ch) blood groups are antigenic determinants of the fourth component of human complement C4. They are associated with the two isotypes of C4, C4A and C4B, respectively. They serve as markers to distinguish C4A from C4B as well as for the definition of subtypes of common and rare allotypes. As an alternative to the serological typing method using human alloantisera, a PCR typing procedure with sequence‐specific primers (PCR‐SSP) was designed. The method was tested on selected DNA samples from individuals with well‐defined C4 allotypes. No false‐positive or false‐negative typing results were obtained and all the determinant combinations could be distinguished. The PCR genotyping allowed the detection of all Rg/Ch sequence determinants of each isotype. Thus, reverse antigenicity could also be established in the presence of other C4 allotypes without a segregation study. To exclude the possibility that PCR‐typed determinants originate from a non‐expressed C4 null gene, a sequence‐specific PCR was established detecting a 2‐bp insertion in exon 29 described previously as a cause for C4A non‐expression. PCR Rg/Ch genotyping provides a fast and efficient method for routine typing in HLA haplotype and disease association studies.
POLYMORPHISM OF THE TUMOUR NECROSIS FACTOR BETA GENE IN MULTIPLE SCLEROSIS AND RHEUMATOID ARTHRITIS
Authors: Vandeyver C. , Raus P. , Stinissen P. , Philippaerts L. , Cassiman J.‐J. , Raus J. 
Published: April 2007

SUMMARYWe evaluated the TNF‐ß gene polymorphism in two HLA‐associated autoimmune diseases, multiple sclerosis (MS) and rheumatoid arthritis (RA). The TNF‐β allele and genotype frequencies were not significantly different in the patient populations, compared to controls. An increased frequency of the TNF‐β* 2 allele was observed in HLA‐DR2+ vs. HLA‐DR2‐ MS patients. No such association was seen in HLA‐DR4+ RA patients.
THE ASSOCIATION BETWEEN COELIAC DISEASE, DERMATITIS HERPETIFORMIS AND CERTAIN HLA‐ANTIGENS IN ICELANDERS
Authors: ÁRnason A. , Skaftadóttir I. , Sigmundsson J. , MOONEY E. , Björnsson J. , Cariglia N. , Pálsson G. , Gudjónsson H. 
Published: April 2007

SUMMARYTwenty‐eight cases of coeliac disease (CD) and seven of dermatitis herpetiformis (DH) have been verified in Iceland. Standard serological techniques were used for HLA typing. Twenty‐five individuals with CD were typed, 21 (84%) of whom carried DR3, DQ2. Twelve of these 25 (48%) had DR3, DR7, DQ2, which makes them possibly homozygous for DQ2, and suggests that homozygosity of DQ2 increases the risk for CD. The four DH patients that were typed all had HLA‐B8, DR3, DQ2. It is concluded that CD and DH are associated with DR3, DQZ in Icelanders.
ANALYSIS OF HLA‐CLASS II DQA1, DQB1, DRB1 and DPB1 IN ITALIAN MULTIPLE SCLEROSIS PATIENTS
Authors: Ciusani E. , Allen M. , Sandberg‐Wollheim M. , Eoli M. , Salmaggi A. , Milanese C. , Nespolo A. , Gyllensten U. 
Published: April 2007

SUMMARYWe studied the allelic constitution at the HLA class II DQA1, DQB1, DRB1 and DPB1 in 94 Italian multiple sclerosis (MS) patients and 98 controls. No significant increase in the frequency of DR2 alleles was detected among MS patients, as previously observed both in European and some Italian studies. A slight increase was found for the DQA 1*0301 and DQB 1*0602 alleles in the MS patients. No significant association was found with the glutamine residue at position 34 of the DQ α chain, which was noted previously in MS patients from northern Europe.
AN ANALYSIS OF HLA CLASS II GENE POLYMORPHISM IN BRITISH AND GREEK IDIOPATHIC MEMBRANOUS NEPHROPATHY PATIENTS
Authors: Vaughan R. W. , Tighe M. R. , Boki K. , Alexoupolos S. , Papadakis J. , Lanchbury J. S. S. , Welsh K. I. , Williams D. G. 
Published: April 2007

SUMMARYFifty‐two British and 29 Greek idiopathic membranous nephropathy (IMN) patients were analysed for DRB, DQA1, DQB1 and DPB1 gene polymorphism using second exon amplification and sequence‐specific oligonucleotides (SSO). In addition 100 British and 92 Greek controls were analysed.A highly significant increased frequency of the DRB 1*0301 allele was found in IMN patients from Britain (80%), when compared to controls (27%, OR 10.6, P= 0.000004). A lower frequency of DRB 1 *0301 was observed in Greek IMN patients (33%), but this was just significant before correction, when compared to Greek controls (15%, OR 3, P= 0.02). The DRB3 allele most often associated with DRB 1 *0301 was DRB3*0101 (OR 4.2, P= 0.00025) in British patients and DRB3*0201/2 (OR 11, P=0.006) in Greek patients. In Greek IMN patients a decrease in DR16 was found (OR 0.08, P=0.004), and the overall incidence of DR2 was significantly lowered when both sets of IMN patients were combined (OR 0.21, χ2 17.6, P= 0.00013).The incidence of DQA1 *0501 was raised in both Greek (96%vs. 66%, OR 9.7, χ2 6.9, P= 0.009) and British IMN (85%vs. 45%, OR 7.4, χ2 20, P= 0.00007) patients. This gives some support to a proposal for a major role for this allele in IMN. However, DQB1 *0201 was also raised in both Greek (50%vs. 21%, OR 3.6, χ2 8.1, P= 0.005) and British (90%vs. 44%, OR 10, χ2 21.7, P=0.00004) IMN patients. The DQA1*0102 allele was significantly lowered in Greek IMN patients (15%vs. 32%, OR 0.05, 12.2, P=0.0008), probably reflecting a lowering in the DR16 haplotype. No significant difference was observed in the frequencies of DPB alleles in patients and controls.It is concluded that DRB 1*0301 has the strongest association with British Caucasoid IMN. The Greek Caucasoid IMN association with DRB 1*0301 is weaker, and a role for other alleles has not been eliminated.
BIOCHEMICAL DEFINITION OF DLA‐A AND DLA‐B GENE PRODUCTS BY ONE‐DIMENSIONAL ISOELECTRIC FOCUSING AND IMMUNOBLOTTING
Authors: Kubens B.S. , Krumbacher K. , Grosse‐Wilde H. 
Published: April 2007

SUMMARYThe serologically defined canine MHC gene products (DLA‐A and DLA‐B) were investigated by one‐dimensional isoelectric focusing after detergent phase separation, and immunoblotting (1D‐IEF). The animals studied (n= 36) represented three different breeds. Since DLA‐A and DLA‐B antigens are MHC class I and class II molecules, respectively, cross‐reactive polyclonal antibodies specific for human class I or class II molecules were utilized to visualize the protein pattern. The relative positions of the bands were correlated with the DLA‐A and DLA‐B antigens. In most cases DLA antigens of identical serological type did not differ in their 1D‐IEF pattern except for DLA‐A9 and the serologically undefined DLA‐B gene product DLA‐B ‘blank’. For DLA‐A9, two subtypes (A9.1 and A9.2) were identified in Beagle and associations of A9.1 with the haplotype A9.B4 and of A9.2 with A9, B6 were seen. In contrast, the haplotype A9, B6 in Labradors was associated with A9.1. Whereas all six serologically defined DLA‐A antigens possessed distinct isoelectric points (IEP), not all DLA‐B antigens could be differentiated by 1D‐IEF: B5 as well as B13 coband with one B ‘blank’ specificity (BE1).Furthermore, a second B ‘blank’(BE2) could be identified by 1D‐IEF, underlining the advantage of this technique in the immunogenetic analysis of DLA gene products in dogs.
MOLECULAR TYPING AND HAPLOTYPIC ASSOCIATIONS OF HLA‐B*44 SUBTYPES
Authors: Varney M.D. , Boyle A.J. , Tait B.D. 
Published: April 2007

SUMMARYThe heterogeneity of HLA‐B44 is confirmed and the sequence difference between the two major subtypes, B*4402,*4403, is attributed to one polymorphic site in the third exon. A method is described to discriminate B*4402 and B*4403, and the occurrence and linkage disequilibrium of B*44 subtypes is discussed. No example of B*4401 polymorphism in exon 2 was observed.
METHYLATION PATTERNS OF I ε REGION IN B CELLS STIMULATED WITH INTERLEUKIN 4 AND EPSTEIN‐BARR VIRUS IN PATIENTS WITH A HIGH LEVEL OF SERUM IgE
Authors: Kuwabara N. , Kondo N. , Fukutomi O. , Fujii H. , Orii T. 
Published: April 2007

SUMMARYHuman IgE synthesis requires the presence of both interleukin 4 (IL‐4) and T‐cells. However, it is not clear what role IL‐4 and T‐cells play in the induction of IgE synthesis at the level of gene regulation. B cells that were obtained from patients with a high level of serum IgE and from healthy donors were immortalized by Epstein‐Barr virus. We examined IgE production of these B cells stimulated with IL‐4. Supernatant IgE levels of patient's B cells cultured with or without IL‐4 were higher than those of healthy donor's B cells. Our results indicated that B cells stimulated with IL‐4 from patients produced IgE, germline C ε transcript, and S μ S ε recombination. The germline C e transcript was dose‐dependently induced in the presence of IL‐4 and related to the supernatant IgE level. In B cells stimulated with IL‐4 that were obtained from patients, (some of the) DNA near or within the I e region was (already partly) unmethylated, unlike those from healthy donors, and there was a loss of methyl groups of the DNA upon the addition of IL‐4 in B cells from both patients and normal donors. IgE synthesis of B cells stimulated with IL‐4 in patients with a high level of serum IgE is due to an accessibility in the immunoglobulin heavy‐chain isotype switch, and this may reflect the accessibility in synthesis of germline C ε transcript, which may be caused by the increase of opening chromatin structures because of their unmethylation in the I ε region.
HLA‐DQB1 AND DQA1 MATCHING BY AMBIENT TEMPERATURE PCR‐SSCP
Authors: Clay T.M. , Culpan D. , Pursall M.C. , Bradley B.A. , Bidwell J.L. 
Published: April 2007

SUMMARYWe have developed a polymerase chain reaction‐single strand conformation polymorphism (PCR‐SSCP) protocol for rapid matching of DQA1 and DQB1 alleles. Electrophoresis can be performed at ambient temperature within the range 18‐28°C without continuous gel cooling. The method has been tested on 27 patient‐potential bone marrow donor pairs for DQB1 and 31 pairs for DQA1. Bone marrow pairs were chosen to represent a broad range of common alleles based upon previous restriction fragment length polymorphism (RFLP) analysis type assignments. Samples were re‐typed by PCR with sequence‐specific primers (PCR‐SSP) and the results compared to matching by PCR‐SSCP analysis. There was a 100% correlation between PCR‐SSP and PCR‐SSCP analysis for DQB1, and a 97% correlation for DQAl matching.
THE CAYAPA INDIANS OF ECUADOR: A GENETICALLY ISOLATED GROUP WITH UNEXPECTED COMPLEMENT C7 M/N ALLELE FREQUENCIES
Authors: Sölder B. M. , Stefano G. F. De , Dierich M. P. , Würzner R. 
Published: April 2007

SUMMARYThe Cayapa Indians live in north‐western Ecuador in close proximity to a Black population of African ancestry. C7 M/N allotyping has proved to be a good technique for plasma genetic analysis in several populations. Investigation of 124 Cayapa plasma samples revealed the highest allele frequency of C7*N observed in any population examined so far (0.36 versus 0.225 or lower). The marked difference in frequency compared with several Oriental populations, which are believed to have been derived from the same Asian population as native Amerindians, may reflect the effect of a small founder population followed by a high degree of genetic isolation. The allele frequency of 0.12 for C7*N determined for the neighbouring Black population supports the conclusion that there has been a lack of genetic admixture of Cayapas with other populations, confirming the results of ethnohistorical investigations and other protein polymorphism studies.
FREQUENCIES OF HLA‐A24 AND HLA‐DR4‐DQ8 ARE INCREASED AND THAT OF HLA‐B BLANK IS DECREASED IN CHRONIC TOXIC OIL SYNDROME
Authors: Arnaiz‐Villena A. , Martinez‐Laso J. , Corell A. , Allende L. , Rosal M. , Gomez‐Reino J.J. , Vicario J.L. 
Published: April 2007

SUMMARYThe cause of toxic oil syndrome (TOS) has not yet been definitively determined, but some genetic susceptibility factors (certain HLA antigens and female sex) have been identified in 236 patients. Similarities with genetic factors for scleroderma and hydralazine‐induced lupus (i.e. in TOS female sex and HLA‐A24, Pcorrected= 0.00001 and DR4, Pcorrected= 0.04, respectively) may provide a clue to the responsible xenobiotic and its pathogenesis, and may also help in understanding the basis of the related eosinophilia‐myalgia syndrome associated with tryptophan ingestion. In this paper it is also established that a human class I antigen (HLA‐A24) and, independently, an HLA class II haplotype (DR4‐DQ8, Pcorrected= 0.04) and arginine 52 in the α‐DQ chains (Pcorrected= 0.03) are associated with TOS susceptibility, similarly to insulin‐dependent diabetes. This further supports the classification of TOS as an autoimmune disease. Also, the increased frequency of a particular set of low‐frequency HLA class I antigens in chronic TOS patients (i.e. B27, B37, B38 and B49) and the probable decrease in the frequency of HLA‐B homozygotes in surviving patients (Pcorrected= 0.008) may provide an objective model to explain the maintenance of the HLA polymorphism: less frequent HLA alleles may be more advantageous in the event of unexpected human contact with unusual xenobiotics (not only microbes); however, other mechanisms working together to preserve and generate HLA polymorphism may coexist.
IMMUNOGENETIC FACTORS IN HPV‐ASSOCIATED CERVICAL CANCER: INFLUENCE ON DISEASE PROGRESSION
Authors: Duggan‐Keen M. F. , Keating P. J. , Stevens F. R. A. , Sinnott P. , Snijders P. J. F. , Walboomers J. M. M. , Davidson S. , Hunter R. D. , Dyer P. A. , Stern P. L. 
Published: April 2007

SUMMARYNo HLA allele or specificity was significantly different in frequency between a group of 150 cervical cancer patients from north‐west England and controls (correctedPvalues). HLA‐DRB 1*1501/DQB 1*0602 was non‐significantly increased, particularly among patients with HPV16‐positive tumours. HLA‐B7‐positive patients had a significantly poorer clinical outcome than HLA‐B7‐negative patients. A significant component of the genotypic effect is down‐regulation of HLA‐B7 expression by the tumour cells.
DISTRIBUTION OF HLA‐G ALTERNATIVE mRNAs INCLUDING SOLUBLE FORMS IN NORMAL LYMPHOCYTES AND IN LYMPHOID CELL‐DERIVED LEUKEMIA
Authors: Amiot L. , Onno M. , Drénou B. , Marchand B. le , Lamy T. , Semana G. , Fauchet R. 
Published: April 2007

SUMMARYThe non‐classical HLA‐G gene is the only class I antigen expressed in trophoblasts at the maternofetal interface. In placenta, the HLA‐G gene produces several alternatively spliced isoforms encoding bound‐membrane proteins (G1, G2, G3 and G4) lacking, respectively, exon 7; exons 7 and 3; exons 7, 3 and 4, and exons 7 and 4. In addition, two isoforms (G1s and G2s) containing an intron 4 sequence are able to encode soluble antigens. We have recently reported that the HLA‐G gene is transcriptionally active in lymphocytes and is not transcribed in CD34+ cells, polynuclear cells or monocytes. To investigate the functional significance of the different isoforms in lymphocytes, we studied their distribution in normal T and B lymphocytes and in malignant lymphoid cells by using the RT‐PCR technique followed by hybridization with exon‐specific probes and sequencing assays. In transcriptionally active lymphocytes, the HLA‐G primary transcript is the major form and is differentially spliced in B and T lymphocytes: (i) G1s is found in several samples of T and B cells whereas G2s is only transcribed in T lymphocytes, (ii) the G4 isoform is never detected in B lymphocytes. In addition, we have shown that HLA‐G is inactive in some samples of lymphocytes. Our data suggest that HLA‐G transcription is regulated at the initiation level and at the subsequent splicing. These two levels of regulation may be dysregulated in some cases of T‐ALL and CLL. The potential functions of the HLA‐G alternative forms in lymphocytes, such as peptide binding and modulation of the immune response, are discussed.
HLA FIVE‐LOCUS HAPLOTYPES IN FINNS
Authors: Ikäheimo I. , Silvennoinen‐Kassinen S. , Tiilikainen A. 
Published: April 2007

SUMMARYThe extreme polymorphism of HLA genes makes them a powerful tool for distinguishing between different genetic populations. Five‐locus HLA haplotypes of Finns (from Oulu, Northern Finland) are described here in order to characterize further the migration pathways of the population to Finland after the Ice Age.From random families, 364 haplotypes were obtained. The most frequent Finnish haplotype A3,Cw4,B35,DR1,DQ1 (7.7%) is a Caucasoid ancestral haplotype and is shared with Italians of Celtic and non‐Celtic origin. The haplotype A1,Cw7,B8,DR3,DQ2, which occurs in 4.7% of Finns, is the most frequent haplotype in Caucasoids. The haplotypes A3,Cw7,B7,DR2,DQ1 (3.6%) and A2,Cw7,B7,DR2,DQ1 (2.5%) are shared with several Caucasoid populations and the latter also with Jamaican blacks. A2,Cw5,B44,DR5,DQ3 (0.8%) is shared with Italians of Celtic and non‐Celtic origin, A2,Cw6,B13,DR7,DQ2 (1.1%) with Caucasoids in the USA and A9,Cw4,B35,DR1,DQ1 (0.8%) with Mongoloids. The haplotypes A2,CW3,B62,DR4,DQ3 (3.0%), A2,Cw2,B27,DR8,DQ4 (1.7%), A2,Cw3,B62,DR6,DQ1 (1.4%) and A2,Cw1,B27,DR4,DQ3 (1.4%) were also found to be among the most frequent in the Finnish population.The most frequent HLA haplotypes are consistent with the postulated ancient migration of populations from southern Scandinavia and Germany to Finland, the most frequent haplotype suggesting a common Celtic origin and one less frequent haplotype suggesting an influence from the east.