bluuebunny/crossref_metadata_2025_split huggingface dataset:
INVESTIGATION OF MINK MHC (MhcMuvi) CLASS I MOLECULES BY ISOELECTRIC FOCUSING (IEF)
Authors: WIENBERG L. , Aasted B. 
Published: April 2007

SUMMARYMink (Mustela vision) class I leucocyte antigens, here abbreviated MhcMuvi according to the proposal given by Kleinet al.(1990), were characterized by isoelectric focusing (IEF), using Triton X‐114‐extracted and neuraminidase‐treated membrane proteins from spleen cells, followed by immunoblotting and development with a murine monoclonal antibody raised against denatured major histocompatibility complex (MHC) class I antigens.Muvi class I antigens were investigated in a group of 97 Danish mink (including five families), of six types (Standard, Wild, Pastel, Pearl, Violet and Sapphire), and a group of 110 French ‘Wild’ mink. For each mink type maximally six protein bands in IEF were identified. Standard, Pastel and Sapphire mink only exhibited from two to four bands. This to us indicated restricted polymorphism of the Muvi class I antigens for these mink. The restriction patterns varied from farm to farm. In the family material the Muvi antigens were found to segregate as expected.The French Wild mink were all naturally infected with Aleutian disease virus (ADV), a parvovirus, and their disease status classified as progressive or non‐progressive. There were approximately 50% in each group. The mink were grouped into one of five class I Muvi profiles. When the profiles were compared to progressive versus non‐progressive disease status, we found that mink with Muvi profile 4 and 5 almost exclusively (13 out of 15) were classified as having progressive Aleutian disease.
EXTENDED HLA‐DQw2 HAPLOTYPES: MOLECULAR ANALYSIS
Authors: Avoustin P. A. , Tkaczuk J. , Coppin H. L. , Cambon‐Thomsen A. , de Préval C. 
Published: April 2007

SUMMARYThe HLA‐DQw2 specificity, homogeneous in serology, is strongly associated to two HLA‐DR specificities: DR3 and DR7. These alleles are found mainly on DQw2 bearing extended haplotypes with strong linkage disequilibrium. We describe, with BamHI, HindIII and RsaI, two restriction fragments length polymorphisms (RFLP) for the A gene of DQw2. These two subtypes correlated with the DR3 and DR7 specificities. Interestingly, by non‐equilibrium pH gradient electrophoresis (NEPHGE), two DQα chains were also found, respectively correlated with the same DR specificities. In addition, Hindi polymorphism allowed us to distinguish several patterns of B genes for (DR7) DQw2 haplotypes but without any detectable association with another HLA marker. However, only one DQ(3 chain was found by NEPHGE in the (DR7) DQw2 haplotype. Furthermore, MncII discriminated the B genes of the two extended haplotypes: (B8, DR3) DQw2 and (B18, DR3) DQw2. The same result was found by NEPHGE: two DQβ chains were described, corresponding to the same extended haplotypes. The use of exon‐specific DQB probes showed that the genomic polymorphism in DOw2 haplotypes is located, at least, at the 3’end of the gene. These data add new characteristics to the different DQw2 extended haplotypes.
THE MOUSE FACTOR H ALLOTYPES WITH MULTIPLE AMINO ACID REPLACEMENT, H.l AND H.2 SHOW INDISTINGUISHABLE CO‐FACTOR ACTIVITY FOR FACTOR I
Authors: Natsuume‐Sakai S. , Okada M. , Seya T. , Nonaka M. , Nonaka M. , Harada Y. , Moriwaki K. 
Published: April 2007

SUMMARYThe authors report the functional analysis of the purified mouse factor H allotypes H. 1 and H.2, which were clearly distinguished from each other by an immunodiffusion test. Both allotypes acted as a co‐factor for factor I in cleaving mouse C3b and we found no significant difference between their activities. The results strongly suggest that the function of mouse factor H for the co‐factor activity has been well conserved between two allotypes.
SUSCEPTIBILITY TO MURINE HEPATITIS VIRUS (Type 3)‐INDUCED PARALYSIS IS INFLUENCED BY CLASS I GENES OF THE MHC
Authors: Oth D. , Lussier G. , Cainelli‐Gebara V. C. B. , Dupuy J.‐M. 
Published: April 2007

SUMMARYUsing H‐2 recombinant congenic strains of mice, genetic analysis of resistance to murine hepatitis virus type 3 (MHV3)‐induced paralysis was performed. It appeared that both H‐2K and H‐2D, two class I gene regions of the mouse major histocompatibility complex (MHC), can play independent significant roles in the establishment of such resistance.
NOVEL HLA‐DR2‐RELATED HAPLOTYPES IN HONG KONG CHINESE IMPLICATE THE DQB1*0602 ALLELE IN SUSCEPTIBILITY TO MULTIPLE SCLEROSIS
Authors: Serjeantson S.W. , Gao X. , Hawkins B.R. , Higgins D.A. , Yu Y.L. 
Published: April 2007

SUMMARYMultiple sclerosis (MS) is strongly associated with the HLA‐Dw2 haplotype DRw15.DQw6 in Caucasoids, although the relative contributions of DR and DQ loci to disease susceptibility are unknown. The situation is further complicated by the apparent lack of an association between DR2 and MS in Orientals. This study examined 42 DR2‐positive chromosomes in healthy Chinese and 12 DR2‐positive chromosomes in MS patients from Hong Kong, using oligonucleotide hybridizations of DQA1, DQB1, DRB1, and DRB5 polymerase chain reaction (PCR) products. There was marked heterogeneity in DR2‐related haplotypes in controls (ten types), where the most frequent haplotype, confirmed in one family, involved the novel arrangement DRB1*1501, DQB1*0601. Another common haplotype had the unusual combination of DRB1*1602, DRB5*0101 as confirmed by DNA sequencing of the DRB5 allele. In contrast, the most common DR2‐related haplotype in MS patients was the ‘classical’ Dw2 haplotype DRB1*1501, DQB*0602, with a frequency of 50% compared with 12% in controls (P= 0.01). Novel DR, DO linkage disequilibrium relationship in Hong Kong Chinese have permitted recognition of DQB1*0602 as a susceptibility allele in DR2‐positive MS patients, although a role for the DRB1*1501 allele in MS pathogenesis has not been excluded by this study.
COMPLEXITY IN THE MAJOR HISTOCOMPATIBILITY COMPLEX
Authors: Trowsdale J. , Campbell R. D. 
Published: April 2007

SUMMARYThe human major histocompatibility complex (MHC) is one of the most intensively studied regions of the human genome, containing over 70 known genes and spanning about 4 million base pairs (4Mbp) of DNA on chromosome 6p21.3 (Klein, 1986). It can be divided up into three regions: the class I region (telomeric), the class II region (centromeric), and the class HI region (between class I and II), which includes the complement component genes C2, C4, and Bf (Trowsdale & Campbell, 1988). The MHC has been mapped in detail using pulse field gel electrophoresis (PFGE) and by cloning in yeast artificial chromosome (YAC) and cosmid vectors, revealing long stretches of DNA between the regions as well as between individual class I and class II genes. Novel genes, that have no sequence relationships with class I, class II or complement components, have recently been found in these areas, and we will present an update on these after reviewing the more established loci.
TWELVE HLA‐DR6‐RELATED DRB1 ALLELES AND ASSOCIATED DR, DQ HAPLOTYPES IN TRADITIONAL AUSTRALIANS AND OTHER POPULATIONS OF ASIA‐OCEANIA
Authors: Gao X. , Serjeantson S. W. 
Published: April 2007

SUMMARYThe relative distributions of 12 HLA‐DR6‐related HLA‐DRB1 alleles in indigenous populations of Australia, Melanesia, Polynesia, Micronesia, and northern and southern China have been determined by analysis of nucleotide sequence polymorphisms in 364 examples of HLA‐DR6 positive chromosomes. Oligonucleotide hybridizations of polymerase chain reaction products of HLA‐DQA1, DQB1, DRB1 and DRB3 genes generated 24 HLA‐DR6‐related haplotypes. The study aimed to determine the regional distribution of DR DQ haplotypes associated with three novel HLA‐DR6 alleles, namely DRB1*1408, 1409, and 1410, known to occur in Australian Aborigines, to gain further insights into the molecular phylogeny of these alleles. DRB1*1408 was the most common HLA‐DR6 subtype in Oceania, although it was not detected in Chinese. In Australian Aborigines and Papua New Guinean highlanders, DRB1*1408 was associated with DRB3*0202, while in Polynesians and Micronesians it was associated with DRB3*0101. The different haplotype arrangements, together with the near absence of DRB1*1408 in coastal Melanesians, suggest the possibility that two independent mutations have generated DRB1*1408 in Australia and Oceania. DRB1*1409 and 1410 alleles were confined to Australian Aborigines, while DRB1*1407 was found exclusively in Melanesians; DRB1*1401 was the only HLA‐DR6 allele represented in all study populations. The population‐specific HLA‐DR6 alleles and haplotypes have important implications for unrelated bonemarrow donor registries in Australia and Oceania.
DIVERSITY IN DNA REARRANGEMENTS AND IN RNA EXPRESSIONS OF IMMUNOGLOBULIN GENE ON COMMON VARIABLE IMMUNODEFICIENCY
Authors: Mori S. , Kondo N. , Motoyoshi F. , Kaneko H. , Inoue Y. , Orii T. 
Published: April 2007

SUMMARYSix heterogeneous common variable immunodeficiency (CVID) patients were analysed for germ‐line DNA, DNA rearrangements, and RNA expressions of immunoglobulin (Ig) gene by Southern or northern blotting using appropriate probes. We detected no polymorphism in neutrophil DNA hybridized to a C μ and a C γ probe. In three patients, both serum Ig and Ig‐bearing cells were scarcely detected, and by northern hybridization methods, neither μ mRNA, γ mRNA, α mRNA nor k mRNA was detected. However, one Epstein‐Barr virus‐transformed B lymphoblastoid cell line (LCL) of these three patients was different from the germ line in the region of JH, Cγ, and Ck, and expressed μ mRNA at a higher level. The B cell defects of these three patients lay on the B cell maturation stage similar to X‐linked agammaglobulinaemia (XLA). In two others among the six CVID patients, serum IgM and IgM‐bearing cells were detected to a certain degree, and by northern hybridization, μ mRNA was detected at a lower level, but neither μ mRNA, α mRNA, nor k mRNA was detected. One LCL of these two patients could express μ mRNA at the normal level. In the last patient, the serum IgM was normal, serum IgG and IgA were somewhat low, Ig‐bearing cells were normal, μ mRNA and k mRNA were detected at the normal level, and γ mRNA and k mRNA were detected at a lower level. The defect of this patient affected the class switch stage. These results showed that primary B cell defects in CVID occurred at several B cell differentiation stages which could be classified by expression of the Ig gene, and at the degree of clonal diversity in the B cell repertoire. Furthermore, this study provides support for the idea that the CVID defect is related to a more generalized cellular function, such as regulating the proliferation and/or clonal expansion of cells of the B lymphoid lineage.
SEROLOGICAL AND MOLECULAR ANALYSIS OF HLA IN ISRAELI PRIMARY SCLEROSING CHOLANGITIS PATIENTS
Authors: Amar A. , Brautbar C. , Goldin E. , Sherman L. , Barmeir S. , Shouval D. , Hansen J. A. , Smith A. G. 
Published: April 2007

SUMMARYHLA class I and class II were investigated in 15 Israeli primary sclerosing cholangitis patients and compared to healthy controls. None of the well established serological specificities were found to be associated with the disease. HLA‐DR52 is serologically defined, but its subtypes DR52a, DR52b, and DR52c cannot be precisely defined by serological means. Therefore, we have used HLA‐DNA typing in order to assign the DR52 splits in PSC patients. Genomic DNA was amplified by PCR, dot‐blotted and hybridized with sequence specific oligonucleotide probes defining the known HLA‐DR52 associated alleles. Only 4 out of the 15 PSC patients tested were found to express DRB3*0101 the allele that encodes DR52a. Of the remaining 11 patients, 9 expressed DRB3*0202 haplotypes, with 2 patients expressing both DRB3*0101 and DRB3*0202, and the remaining 2 patients expressed no DRB3 allele. Our data indicate that there is no apparent association between PSC and the HLA antigens and alleles studied including the alleles of the DRB3 locus in the Israeli population. Thus HLA pheno/genotyping of PSC patients in the Israelis will not be useful for early and/or differential diagnosis of this disease.
MONOMORPHIC ORGANIZATION OF HUMAN DIVERSITY (DH) HEAVY CHAIN VARIABLE GENES
Authors: Chastagner P. , Theze J. , Zouali M. 
Published: April 2007

SUMMARYWhile recent evidence indicates that human immunoglobulin heavy chain variable (VH) genes exhibit a high degree of heterogeneity, little is known concerning the polymorphism of the diversity (DH) gene complex. This locus comprises two clusters, major and minor, which are physically linked with the VH locus. In assessing the variability of the human major and minor DH clusters, we found no evidence for a substantial restriction site polymorphism. We also noted that, in contrast to what was found in the Japanese population, the DH1 gene is not deleted in an appreciable proportion of the European population. We propose that, because DH genes impart the critical functions associated with the third complementarity‐determining region, the genomic organization of the human DH locus has been evolutionarily conserved through selection pressure mechanisms.
FREQUENCY OF HLA‐DPB1 ALLELES IN MULTIPLE SCLEROSIS PATIENTS FROM NORTHERN IRELAND
Authors: Middleton D. , Savage D. A. , Cullen C. , Trainor F. , Mallon E. , Hawkins S. 
Published: April 2007

SUMMARYUsing sequence‐specific oligonucleotide probes, no altered distribution in the frequency of HLA‐DPB1 alleles was found in multiple sclerosis patients from Northern Ireland. Although present in the controls, linkage disequilibrium between HLA‐DPB1*0101 and HLA‐DR17 was not found in multiple sclerosis patients.
THE HLA‐DRB1*0405 HAPLOTYPE IS MOST STRONGLY ASSOCIATED WITH IDDM IN ALGERIANS
Authors: Djoulah S. , Khalil I. , Beressi J. P. , Benhamamouch S. , Bessaoud K. , Deschamps I. , Degos L. , Hors J. 
Published: April 2007

SUMMARYInsulin‐dependent diabetes mellitus (IDDM) in Caucasians is strongly associated with HLA‐DR3‐DQ2 and DR4‐DQ8. In order to investigate the HLA class II associations with IDDM in Algerians, we have used polymerase chain reaction (PCR) and sequence specific oligonucleotide analysis (SSO) to identify DQA1, DQB1, and DRB1 alleles, haplotypes and genotypes in 50 unrelated IDDM patients and 46 controls from a homogeneous population in Western Algeria. Both DRB1*0301‐DQA1*0501‐DQB1*0201 (DR3‐DQ2) and DRB1*04‐DQA1*0301‐DQB1*0302 (DR4‐DQ8) haplotypes were found at increased frequencies among the patients compared to controls (45% vs. 13%, RR = 5.5, Pc < 10‐5 and 37% vs. 4%, RR = 12.9, Pc < 10‐4, respectively). Among the latter, in contrast to other Caucasian populations, only DRB1*0405‐DQA1*0301‐DQB1*0302 was significantly increased in the Algerian patients (25% vs. 1% in controls, RR = 30.3, Pc < 10‐3). Accordingly, the highest risk of disease was observed in DRB1*0301‐DQA1*0501‐DQB1*0201/DRB1*0405‐DQA1*0301‐DQB1*0302 heterozygotes (34% in patients vs. 0% in controls; RR = 49; Pc < 10‐3). This observation and its comparison with DR‐DQ haplotypes in other ethnic groups suggest that the DRB1*0405 allele which encodes an Asp57‐negative β chain may contribute to IDDM susceptibility in a similar way as Asp57‐negative DQβ chains.
FOETO‐MATERNAL COMPATIBILITY IN HLA‐DR, ‐DQ, AND ‐DP LOCI IN FINNISH COUPLES SUFFERING FROM RECURRENT SPONTANEOUS ABORTIONS
Authors: Laitinen T. , Koskimies S. , Westman P. 
Published: April 2007

SUMMARYThe polymorphism of Major Histocompatibility Complex (MHC) class II genes DRB, DQA, DQB, and DPA was studied by Taq I Restriction Fragment Length Polymorphism (RFLP) in recurrent spontaneous abortions (RSA). The study group consisted of 35 primary abortion (PA) couples (no children) and 15 secondary abortion (SA) couples (1‐2 children before abortions). We found no increase in DR‐DQ compatibility between the mother and the foetus in the Finnish RSA group. In contrast to findings in some other populations, foeto‐maternal incompatibility was increased in the PA group. Thus, our results do not support the theory that increased MHC class II compatibility is a cause of abortions as such. The Finns are a small and relatively isolated population with a unique gene inheritance. Thus, one can speculate that, if the human MHC class II is in the linkage with disadvantageous ‘fertility genes’, and these genes might nonetheless still be clustered in only a few MHC haplotypes among the Finns. This would be the reason, that DR‐DQ sharing is not seen. The presence of rare HLA alleles, such as DR2 and DR6, among the aborters also supports this. In addition, this study extends our previous findings on MHC class III in regards to PA and SA couples differing immunogenetically from each other. In MHC class II, this was most obvious in the DPA1 locus. The vast majority of SA women were heterozygous for the two most common DPA1 alleles (14.0kb and 13.5kb), resulting in significantly smaller chances for a DPA1 mismatched foetus to occur in the SA group than in the controls or in the PA women.
DNA TYPING FOR HLA‐DPB1‐ALLELES IN GERMAN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS USING THE POLYMERASE CHAIN REACTION AND DIG‐ddUTP‐LABELLED OLIGONUCLEOTIDE PROBES
Authors: Yao Z. , Hartung K. , Deicher H.G. , Brunnler G. , Bettinotti M.P. , Keller E. , Paul C. , Gawron C. , Mikschl S. , Albert E. ,   The Members of The SLE Study Group
Published: April 2007

SUMMARYGenomic DNA of 178 German Caucasian patients with systemic lupus erythematosus are studied for HLA‐DP locus by using PCR and DIG‐ddUTP‐labelled oligonucleotide probes. A significant increase of DPB1*0101 is observed in SLE patients compared with healthy controls (χ < 2 < = 15.27, p.c. <0.004). DPB1*0501 and *0901 are also slightly increased (χ2= 5.85, P < 0.05, p.c. = NS; χ2= 5.64, P < 0.05, p.c. = NS). There is no significant difference in frequency of DP alleles between male and female patients. Since a linkage disequilibrium between HLA‐B, DR and DP loci is found in our SLE patients, an analysis is performed assessing the relative importance of these HLA‐markers to SLE. The results show that the increase of DPB1*0101 in SLE patients is associated with the HLA‐B8, DR3 haplotype and it suggests a more important role for HLA‐B8, DR3 or genes within this haplotype than for DPB1*0101 in the genetic predisposition for SLE.
GENETIC CONTROL OF LEISHMANIA MAJOR INFECTION IN CONGENIC, RECOMBINANT INBRED AND F2 POPULATIONS OF MICE
Authors: Mock B. , Blackwell J. , Hilgers J. , Potter M. , Nacy C. 
Published: April 2007

SUMMARYThe outcome of subcutaneous infection with L. major NIH 173 was evaluated in a series of recombinant inbred and congenic strains, as well as F2 progeny generated from a genetic linkage testing stock carrying the visible markers Ra, Os, and Pt. The disease parameters monitored were the incidence of open or necrotic lesions and footpad depths of infected feet, and the incidence and number of amastigotes in livers following infection. Regions of mouse chromosomes 2, 4, 7, 8, 12 and 15 were excluded from linkage to a gene (Scl‐1)involved in the susceptibility of inbred strains of mice to cutaneous infection with L. major NIH 173 by F2 and congenic strain analyses. Strain distribution patterns generated for Scl‐1 in the CXB and CXS recombinant inbred strains suggested linkage to the distal end of mouse Chromosome 11.
MAPPING OF GENES CONTROLLING LEISHMANIA MAJOR INFECTION IN CXS RECOMBINANT INBRED MICE
Authors: Roberts M. , Mock B.A. , Blackwell J.M. 
Published: April 2007

SUMMARYPrevious studies demonstrated that growth of the primary lesion following Leishmania major infection in inbred mice comes under the control of a single major gene designated Scl‐1. Preliminary mapping studies had suggested a chromosome 8 location for the gene. In this paper a more detailed study of different disease phenotypes (lesion growth, splenomegaly, liver parasite load) in 14 CXS recombinant inbred (RI) mouse strains was undertaken in order to obtain a more definitive map location for the gene. Using the Kruskal‐Wallis generalization of the Wilcoxon Rank‐Sum Test to assign RI strains to parental phenotypes, high concordances with genes at the mid (11‐3) to distal end (Dlb‐1, Hox‐2, Sigje, Mtv‐3 and Es‐3) of chromosome 11 were demonstrated with two strains (LV39 and NIH173) of L. major given as promastigotes subcutaneously into the shaven rump. The results suggest that the most likely location for the previously described single major gene (Scl‐1) regulating early lesion expansion is at the distal end of mouse chromosome 11, with the possibility that a gene located more proximally influences later phases of the infection.
GENETIC BASIS FOR DIABETES RESISTANCE IN NOD/WEHI MICE
Authors: Baxter A. G. , Hamilton F. , Mandel T. E. , Augustine C. , Cooke A. , Morahan G. 
Published: April 2007

SUMMARYThe basis for diabetes resistance in low diabetes incidence NOD/Wehi mice was examined in a breeding study. NOD/Wehi mice were crossed with high diabetes incidence NOD/Lt mice producing F1 hybrid mice which expressed a low incidence of diabetes. To distinguish between genetic and environmental causes for diabetes resistance, these F1 mice were backcrossed to NOD/Lt mice resulting in BC1 hybrid mice which expressed an intermediate incidence of diabetes. Similar results were obtained by examining the severity of insulitis in the hybrid mice. As both the incidence of diabetes and severity of insulitis in the hybrid mice were consistent with a single dominant gene mediating diabetes resistance, an attempt to localize this gene was made. Although over 140 loci which display polymorphism amongst inbred strains were typed in both parental lines, only a single locus, D8Mit9, was found to differ. As heterozygotes at D8Mit9 were not over represented amongst 45 diabetic BC1 hybrid mice examined, it was concluded that a resistance gene was not linked to this locus.
MHC IN SYSTEMIC LUPUS ERYTHEMATOSUS: A STUDY ON A KUWAITI POPULATION
Authors: Fouad F. , Johny. K. , Kaaba S. , Alkarmi T. O. , SHARMA P. , Al‐Harbi S. 
Published: April 2007

SUMMARYHLA alleles were studied in Kuwaiti patients with Systemic lupus erythematosus (SLE). Although significant association of B5, B8, and DR3 has been reported in the literature, the most common phenotype for our patients is A3, DR2 as susceptible alleles and DQ1 as a protective gene.
HSP70‐Hom NcoI POLYMORPHISM AND HLA‐ASSOCIATIONS IN THE FINNISH POPULATION AND IN PATIENTS WITH ANKYLOSING SPONDYLITIS OR REACTIVE ARTHRITIS
Authors: Westman P. , Partanen J. , Leirisalo‐Repo M. , Koskimies S. 
Published: April 2007

SUMMARYThe NcoI polymorphism of the HSP70‐Hom gene was investigated in the Finnish population and in two HLA‐B27‐associated autoimmune diseases. The two HSP70‐Hom alleles were shown to be strongly associated to some specific HLA‐B/DR haplotypes in random Finnish population and the segregation of the alleles as a part of these haplotypes was confirmed in 18 families. In addition, the HSP70‐Hom alleles of 31 patients with ankylosing spondylitis (AS) and 38 with reactive arthritis (ReA) were compared with each other and with 56 unrelated healthy HLA‐B27 positive individuals. The results indicated that the HSP70‐Hom polymorphic variation is not connected independently to the different pathogenesis of AS and ReA, as no statistically significant differences between the patient groups and/or controls could be found. The HSP70‐Hom status was investigated also in 28 homozygous HLA typing cells and when compared with previously published results of HSP70‐1 and HSP0‐2 polymorphisms, it appeared that these three MHC Class‐III linked HSP70 genes segregated in fixed allelic combinations.