摘要:

Abstract:The occasional familial occurrence of idiopathic nephrotic syndrome (NS) points to a genetic predisposition. Reports on associations with certain HLA class II antigens support this hypothesis. In order to define the immunogenetic background of NS more precisely, HLA class II allele frequencies in 161 children with NS were studied by restriction fragment length polymorphism (RFLP) typing. The patient cohorts consisted of 87 children from Southwest‐France and 74 from Southwest‐Germany. The control group consisted of 118 French and 101 German unrelated individuals from the same geographical areas. HLA alleles were defined in patients with steroid‐sensitive (SS) and steroid‐resistant (SR) NS and in controls. RFLP typing revealed that the previously reported association between SSNS and HLA‐DR7 is confined to the RFLP split 7.1 (DRB1*07) with a combined relative risk (RRcomb) of 6.2. HLA‐DQB typing showed an increased frequency of the allele DQB2b (DQB1*0201) (RRcomb = 7.8). HLA‐DQA typing showed an association of SSNS with DQA3 (DQA1*0201,0301,0302) (RRcomb = 4.1). The highest RR (16.5) for SSNS was found in German patients who carried the two DRB1 specificities 17.1 (DRB1*0301) and 7.1 (DRB1*07). All associations were stronger in SS patients with frequent relapses or steroid dependency than in non‐ or infrequent relapsers. SR patients exhibited no significant associations with HLA c

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02340.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Abstract:It has been established that HLA antigens are susceptibility factors for different cancers, including thyroid tumors. However, the diversity and sometimes weak and contradictory associations found have frequently led to the view that the HLA and tumorigenesis links might be the result of statistical errors. However, it has recently been established that it is indeed a currently complex and unexplained but real phenomenon, which may be crucial in preventing several types of cancer. In the present work we have found in a relatively large series of thyroid cancer patients (n = 161) that both HLA class I (B35) and class II (DR11) antigens are susceptibility factors only in the papillary tumor group of patients, B35 association p value is found at the limit of significance (pc(120)= 0.05); the follicular group did not show any HLA association, suggesting that the etiopathogenesis of each type of cancer is different. HLA‐B35 and DR11 are not working together to induce tumorigenesis and each of them seems to confer susceptibility by using different pathways or by being markers of distinct neighboring susceptibility genes. DR4 has also been found in 86% (n = 6) of Hürthle cell carcinoma. No association has been found between HLA and disease activity. HLA mechanisms of association to cancer are discussed and a world‐wide HLA/tumorigenic study is proposed to obtain a clear picture of the puzzling and controversial susceptibility markers found in different tumors and in different ethnic gr

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02341.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Abstract:The DR52‐associated DRB1 and DRB3 alleles were resolved by PCR‐RFLP. Second exon was amplified using four primer pairs (groups 1–4) for DRB1 and a pair for DRB3 alleles. Except for three endonucleases, all others had either none or only one site for a specific amplified product. Group 1 primers amplify 10 DRB1 alleles (DRB1*0302, 1101, 1302, 1303, 1305, 1307, 1402, 1403, 1407 and 1409). All but one pair, DRB1*1402 from 1409, could be resolved using seven endonucleases (ApaI, SacII, FokI, AvaII, BsaAI, BsrBI and SfaNI). Group 2 consisted of four alleles (DRB1*1201, 1202, 1404 and 1411) that can be resolved along with co‐amplified DRB1*0804 and 0806 using five endonucleases (AvaII, SacII, FokI, HaeII and RsaI). Group 3 primers amplify 15 DRB1 alleles (DRB1*0301, 0303, 1102, 1103, 1104, 1107, 1301, 1304, 1306, 1308, 1401, 1405, 1406, 1408 and 14‐New), which can be resolved using nine enzymes (KpnI, AvaII, FokI, SacII, HaeII, BsrBI, SfaNI, DdeI and RsaI). BsrBI, a new endonuclease, can resolve DRB1*1301 from 1306 and the previously unresolved allele DRB1*1103 from 1104. DRB1*1410, co‐amplified with DR4 group‐specific primers, is resolved with PstI which cleaves all DR4 alleles but not DRB1*1410. All four DRB3 alleles (DRB3*0101, 0201, 0202 and 0301) and their heterozygotes are resolved using two endonucleases, RsaI and HphI. Thirty‐four DR52‐associated alleles and their heterozygotes can be unambiguously resolved, except for DRB1*1402 from 1409. Thus, PCR‐RFLP remains an effective method for high‐resolution HLA‐DR typing. Furthermore, PCR‐RFLP can complement the evolving PCR‐SSP method for allele‐specific typing using a minimal number

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02342.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Abstract:A new procedure for HLA‐DRB1 typing is proposed. The method combines six group‐specific amplifications with heteroduplex analysis and, in some cases, enzyme restriction analysis. This technique, which is as discriminative as oligotyping, is simple, economical and does not require probes. These characteristics make this approach a valid alternative to other HLA genomic typing procedures, especially in those cases such as donor‐recipient pairs matching where a small number of samples has to be managed at

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02343.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Abstract:The nucleotide sequence of cDNA encoding the HLA‐B73 antigen was determined; it is unusually divergent, differing from other HLA‐B alleles by 44–77 nucleotide substitutions. Features that distinguish the B*7301 heavy chain from other HLA‐B heavy chains include multiple substitutions in the α3domain and a duplication‐deletion within the transmembrane region that increases the length of B*7301 compared to other HLA‐B heavy chains. The duplication‐deletion is shared with subsets of B alleles from the homologous gorilla (Gogo‐B) and chimpanzee (Patr‐B) loci. Other unusual features of B*7301 are individually shared with certain alleles of the HLA‐A, HLA‐C, HLA‐F, Gogo‐B and Patr‐B loci. The B*7301 molecules has sequence elements in common with members of the B7 crossreacting group in the α1domain and is shown to possess the ME1 epitope, which is held in common with the B7, B22, B27, B42 and B67 antigens. B*7301 has a unique cysteine at position 270 of the α3domain which appears accessible but probably does not form disulphide‐bonded B*7301 dimers in cell membranes. B*7301 represents a newly discovered but ancient lineage of HLA‐B alleles that appears poorly represen

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02344.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02345.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02346.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02347.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02348.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1994.tb02349.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY