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1. |
T‐CELL RECEPTOR α, δ, AND γ CHAIN GENES IN INSULIN‐DEPENDENT DIABETES MELLITUS |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 317-325
E. Martianez‐Naves,
M. Penta,
C. Loapez‐Larrea,
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摘要:
SUMMARYWe have studied the genotypic, haplotypic, and allelic distribution of germline Restriction Fragment Length Polymorphism (RFLP) of T‐cell receptor (Tcr) α, γ, and δ loci in 75 insulin‐dependent diabetes mellitus (IDDM) patients and 84 healthy blood donors as control population. The restriction endonuclease PvuII produces three allelic fragments of Tcr C‐γ (TcrCG) gene segment of 16,13, and 11.3 Kb respectively. Our observations revealed thatPvuII/TcrCG RFLP allelic distributions were not significantly different in the IDDM and the control group. However, 85% of IDDM patients carried HLA DR3 and/or DR4 haplotypes, and when comparing these patients with a second group of HLA DR3+ and/or DR4+ healthy individuals, the 11Kb/PvuII fragment of TcrCG gene was found to be associated with IDDM patients (χ= 11.4,P= 0.003). 54.9% of IDDM patients carried at least one 11.3 Kb allele vs. 21% in controls (χ= 10.77,P =0.004). No significant association was found between RFLP in Tcr, Cα, Cδ, Vγ9
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00151.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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2. |
INVASIVE SQUAMOUS CELL CARCINOMA OF THE CERVIX: IS HLA‐DQ A DISEASE MARKER IN JEWISH PATIENTS? |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 327-333
A. Amar,
S. Battat,
S.O. Anteby,
C. Brautbar,
B.E. Reubinoff,
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摘要:
SUMMARYHLA class I and class II were investigated in 30 Israeli patients with invasive squamous cell carcinoma of the cervix and compared to healthy controls. None of the studied serological specificities were found to be associated with the disease. Genomic DNA from the patients was amplified by PCR, dot‐blotted and hybridized with sequence specific oligonucleotide probes defining the known DQA1 and DQB1 allelic variants. Fifteen out of the 30 patients tested (50%) were found to carry theDQA1*0501allelic variant, which is common in the local healthy population (67%).DQB 1*0302was found in eight out of 30 patients (27%) while this allele was present in 17% of the healthy population, a difference which is not statistically significant. Our data indicate that there is no apparent association between invasive squamous cell carcinoma of the cervix and the HLA antigens and alleles studied including the alleles of the DQ A and DQB loci in the Israeli population. Our findings indicate that MHC genes could not be useful in the diagnosis of squamous cell carcinoma of the cervi
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00152.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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3. |
GENETIC CONTROL OF LEISHMANIA MAJOR INFECTION IN CONGENIC, RECOMBINANT INBRED AND F2 POPULATIONS OF MICE |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 335-348
B. Mock,
J. Blackwell,
J. Hilgers,
M. Potter,
C. Nacy,
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摘要:
SUMMARYThe outcome of subcutaneous infection withL. majorNIH 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 markersRa, Os, andPt.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 withL. majorNIH 173 by F2 and congenic strain analyses. Strain distribution patterns generated forScl‐1in the CXB and CXS recombinant inbred strains suggested linkage to the distal end of mouse Chromosome
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00153.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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4. |
MAPPING OF GENES CONTROLLING LEISHMANIA MAJOR INFECTION IN CXS RECOMBINANT INBRED MICE |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 349-362
M. Roberts,
B.A. Mock,
J.M. Blackwell,
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摘要:
SUMMARYPrevious studies demonstrated that growth of the primary lesion followingLeishmania majorinfection in inbred mice comes under the control of a single major gene designatedScl‐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‐3andEs‐3) of chromosome 11 were demonstrated with two strains (LV39 and NIH173) ofL. majorgiven 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
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00154.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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5. |
ABSENCE OF STRONG HLA‐DR/DQ‐DP LINKAGE DISEQUILIBRIUM IN THE BRITISH AND FRENCH CANADIAN CAUCASOID POPULATIONS |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 363-371
W.M. Howell,
P.R. Evans,
S.A. Devereux,
D.A. Sage,
J.L. Smith,
D.G. Haegert,
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摘要:
SUMMARYHLA‐DR/DQ‐DP linkage disequilibrium was investigated in healthy, unrelated British (n= 150) and French Canadian (n= 67) caucasoid subjects. HLA‐DR and DQ typing was performed by Taq I DNA‐RFLP analysis, while DPB1 typing was performed by PCR‐SSOP. χ2and Fisher's exact tests were performed for all 2‐locus biallelic comparisons and coefficients of linkage disequilibrium determined.In the British population, only one example of linkage disequilibrium, significant atP= 0.05 (after correction for the number of comparisons made) was seen (DPB1*0101‐DRB1*0301[171]). Additional associations, significant atP =0.05 before correction for the number of comparisons were also seen, including DPB1*0401‐DRB1*15, DPB1*1101‐DRB1*0701(71), DPB1*1701‐DRB1*0701/ 2(72), DPB1*0101‐DQA1*0501, DPB1*0401‐DQA1*0102, DPB1*0501‐DQA1*0102, DPB1*0101‐DQB1*0201, DPB1*0401‐DQB1*0602/0603 and DPB1*1101‐DQB1*0201. With one exception (DPB1*1101‐DQB1*0201), none of these associations was seen in the French Canadian group.These results indicate that although more frequent than thought hitherto, HLA class II linkage disequilibrium involving DPB1 alleles is generally weak, and can differ even between different caucasoid populations. This may have implic
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00155.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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6. |
GENOMIC MHC HAPLOTYPING OF MUTANT CELL LINES USING A NOVEL MARKER |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 373-380
M.A. Degli‐Esposti,
J.F. Williamson,
G.K. Tay,
B. Salmon,
G.A. Joseph,
A.A. Morley,
R.L. Dawkins,
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摘要:
SUMMARYThe aim of this study was to characterize MHC mutant cell lines by studying haplospecific markers within the MHC and specifically in the 250 kilobase (kb) region between the HLA B and TNF loci. This region has been difficult to define because of the lack of appropriate markers. Spontaneous MHC mutants were isolated after immunoselection with an anti‐HLA A2 monoclonal antibody and complement. Ten mutants were characterized using serological or allelic and genomic DNA markers within the HLA A to HLA DQ region of the MHC. Most mutants lost at least the 3 megabases of DNA from HLA A to HLA DQ viz the whole haplotype carrying HLA A2. Variants which have lost either HLA A alone or HLA A and HLA B were also found. The results show that it is possible to map the extent of the deletion between HLA B and TNF. Haplospecific scanning patterns for the CL region appear particularly usefu
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00156.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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7. |
ROLE OF A GENETIC REGION ON CHROMOSOME 4 IN THE REGULATION OF NATURAL KILLER CELL ACTIVITY IN MICE |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 381-389
D.P. Dubey,
N.M. Mirza,
B.I. Zaharian,
E.J. Yunis,
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摘要:
SUMMARYNatural killer cell (NK) activity is regulated by both the H‐2 and non‐H‐2 genes. Using bilineal congenic HW26C and HW13 mice which differ from the background strain C57BL/6By (B6) in a region of chromosome 4, we investigated the role played by a gene/genes in a segment of chromosome 4 of BALB/cBy on NK cell activity. Percoll separated low density spleen cells from young HW26C and HW13 mice showed a 3.5 fold higher NK activity than the B6. We also observed that the increase in NK activity of HW26C was not due to an increase in the number of NK cells. Using five other bilineal congenics containing different regions of chromosome 4 of BALB/cBy, we observed that the putative gene(s) regulating NK activity may be located betweenband IFN‐α/β genes of chromosome 4. The level of NK activity of (B6xHW26C)F1 ranked between the HW26C and B6 suggesting that the gene product described is inherited in an incompletely dominan
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00157.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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8. |
A SHARED HLA‐DRB1 SEQUENCE CONFERS RA SUSCEPTIBILITY IN GREEKS |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 391-398
D. Carthy,
W. Ollier,
C. Papasteriades,
H. Pappas,
W. Thomson,
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摘要:
SUMMARYPrevious serological studies of Greek rheumatoid arthritis (RA) patients have failed to demonstrate an association with DR4. Using sequence specific oligonucleotide typing we have identified the DRB1 alleles in panels of Greek RA patients and controls.When patient and control HLA‐DRB1 frequencies were compared, significantly higher frequencies of DRBl*0101(23.3% vs. 7.0%, odds ratio [OR] 4.0, 95% confidence intervals [CI]1.4‐12.0) and DRB1 *1001 (20.9% vs. 5.8%, OR 4.3,95% CI 1.3‐13.7) were found in RA patients compared with controls. No association of DRB1*04with RA was observed (20.9% vs. 14.0% in controls) confirming earlier reports. However DRB1*04 subtyping demonstrated a small but significant increase of DRB1*0405 in patients (14.0% vs. 3.5%, OR 4.5, 95% CI 1.1‐18.9).When the frequency of individuals carrying the shared RA susceptibility epitope was compared between patients and controls it was found to be significantly higher in RA patients (60.5% vs. 22.1%, OR 5.4, 95% CI 2.4‐12.0). We conclude that the shared epitope is significantly associated with RA in this population, but that it is predominantly accounted for by DRB 1*0101and DRB1*1001.Previous studies of UK RA patients have demonstrated a negative association of DR2 with disease and articular erosions. HLA‐DR2 variants, DRB1*1501 and *1502 are not at reduced frequency in Greek RA patients (DRB1*7507, 14.0% in patients vs. 7.0% in controls; DRB1*1502, 7.0% in patients vs. 7.0% in controls). Genes conferring RA resistance may be in linkage disequilibrium with DR2 in UK patients. This does not appear to be the case in Greek RA patients.No association was seen between RA and HL
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00158.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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9. |
POLYMORPHISM OF THE 5’ FLANKING REGION OF THE HLA‐DQA1 GENE IN COELIAC DISEASE |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 399-407
M. Paz Bettinotti,
A. Kolek,
G. Brünnler,
P. Haas,
C. Paul,
M. Hochberger,
A. Bartova,
A. Kimura,
T. Sasazuki,
E. D. Albert,
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摘要:
SUMMARYCoeliac disease (CD) is associated with particular HLA genotypes. The susceptibility gene (or genes) has been mapped to the class II region, most probably to the DQ loci. Polymorphism of the upstream promoter region of the DQA1 gene (QAP) has been recently reported. At least ten variants or QAP alleles have been found, some of which are present in the as‐acting regulatory sequences. Allelic differences in DQ molecule expression may play a role in susceptibility to CD. We investigated the QAP polymorphism in 102 CD patients and 142 unrelated healthy controls of Czech origin using polymerase chain reaction amplification (PCR) of genomic DNA and oligonucleotide probes. We found a significant frequency increase of the alleles QAP 4.1 (RR = 10.3, p.c. = 10‐6) and QAP 2.1 (RR = 2.4, p.c. = 0.017) in patients over controls. An increased susceptibility is provided by the presence of both alleles, as is shown by the higher proportion of QAP 4.1, 2.1 heterozygotes among patients than expected from the Hardy‐Weinberg equilibrium and by the comparison of the odds ratios for these alleles. There is a strong linkage disequilibrium between the QAP alleles and the DQA1, DQB1, and DRB1 loci. Two haplotypes carrying the QAP alleles whose frequency is increased are predominant in this group of CD patients: DQB1* 0201, DQA1* 0501, QAP 4.1, DRB1* 0301 and DQB1* 0201, DQA1* 0201, QAP 2.1, DRB1* 0701. Thus, the QAP variants are increased as part of these haplotypes and we cannot discriminate if they are responsible for the primary associ
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00159.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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10. |
GENETIC BASIS FOR DIABETES RESISTANCE IN NOD/WEHI MICE |
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International Journal of Immunogenetics,
Volume 20,
Issue 5,
1993,
Page 409-417
A. G. Baxter,
F. Hamilton,
T. E. Mandel,
C. Augustine,
A. Cooke,
G. Morahan,
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摘要:
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.
ISSN:1744-3121
DOI:10.1111/j.1744-313X.1993.tb00160.x
出版商:Blackwell Publishing Ltd
年代:1993
数据来源: WILEY
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