摘要:

Abstract:Trino Vercellese, a village of Piedmont (Italy), was selected with the aim at reconstructing the genetic history of a putative Celtic sample known to be settled in Italy with the name ofRigomagussince pre‐roman times. The HLA‐A, Cw, B, DR and DQ antigens of 101 unrelated individuals have been typed. The antigens characterizing this sample for their higher frequency are shown to be A3, All, A32, B35, B39, Bw52, Cw4, DRw11, DRw13, DQw7. Gene frequencies are estimated by maximum likelihood and Hardy‐Weinberg equilibrium was tested with no deviant genetic locus. Two‐locus haplotype frequencies were also estimated and those with significant associations tabulated. “Extended” haplotypes were reconstructed: the three most frequent haplotypes (covering a total frequency of 11.5%) share the same Cw, B, DR and DQ alleles. Comparisons with other Italian and European samples are indicated to challenge archeological evidence of a pre‐roman genetic stratification of the people living in our

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02457.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Low and high resolution sequence specific oligonucleotide probe hybridization patterns were used to design an approach to direct sequencing of allele specific amplified cDNA. Several PCR amplifications were used to derive overlapping sequence fragments to define complete first domain sequences for a single allele. This method has been used to characterize three new DRB1 alleles in the DR52 family, DRB1*1115, DRB1* 1117, and DRB1*1319. All three alleles carry polymorphisms previously observed in other DRB alleles and underscore the importance of utilizing a directed sequencing approach for obtaining unambiguous typing results in matching for bone marrow transplantation between unrelated donor and recipient.

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02458.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:We investigated thecis‐acting sequences that function in the B‐cell‐specific expression of the HLA‐DPB1 gene. Class II B major histocom‐patibility genes contain a conserved upstream sequence that is important in the expression of these genes. This region has been divided into three major elements, the W, X, and Y boxes. In this paper, we identified an additional positive regulatory element upstream from the DPB1 W box. Using 5′ deletion mutants and a substitution mutant, we mapped a positive element, called the W box, between‐184˜‐169 bp. Sequence comparison revealed that the W box shares homology with the W box. Electrophoretic mobility shift assay confirmed that the W box binds proteins that also recognize the W box. Furthermore, deletion and substitution mutants indicate that the W and W boxes effectively enhance CAT activities only when the X a

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02459.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Early‐onset pauciarticular juvenile chronic arthritis (EOPA‐JCA) has associations with different alleles of the MHC region (HLA‐A2, DR5, 6, 8, DQA 1*0401, *0501, *0601 and DPB1*0201). All susceptible DQA1 alleles carry an exclusive sequence motif. MHC‐class II gene expression is controlled by 5′ flanking upstream regulatory regions (URR). A hypervariable region in the promoter region of the HLA‐DQA1 gene (‐240 and‐200 base pairs upstream) defines ten different QAP (DQA1‐Promoter) alleles, which are associated with certain DQA1‐alleles. The Y‐Box in the DQA1 promoter (YC‐Box‐125 to‐115 upstream from the ATG) differs from the consensus sequence (‐123 A for G) of all other MHC class II Y‐Boxes, resulting in a lower affinity to the NF‐Y transcription factor and in a reduced expression of DQA1. A second substitution in the Y‐Box of QAP 4.1 and 4.2 (‐119 A for G) is found in the promoter alleles of the DQA 1‐alleles (DQA 1*0401, *0501, *0601) and is strongly ass

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02460.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:During screening of potential bone marrow donors, a previously undescribed banding position for the serologically defined HLA‐B7 antigen was identified in three unrelated families using one dimensional isoelectric focusing and class I specific Western blot analysis. The isoelectric point of the new variant is more acidic than the two HLA‐B7 variants that had been defined before. In each family the new B7 variant was found linked to HLA‐A2 and ‐Cw7. Cloning and sequencing of full‐length clones of complementary DNA showed that the new allele (B*0704) differs from B*0702, the common allele encoding HLA‐B7, by three nucleotide substitutions within the codon for residue 156 of the mature heavy chain. As a result of these differences amino acid 156 is changed from arginine to aspartic acid, a difference consistent with the isoelectric points. The group of three nucleotide substitutions that distinguish B*0704 from B*0702 is present in other HL

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02461.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:The objective was to determine the role of the TAP 1 gene in influencing the phenotype of disease in adult patients with ankylosing spondylitis (AS). The distribution of TAP 1 gene alleles was determined using the PCR RFLP method and restriction enzymes Bcl I and Ace I. The study population included 115 HLA‐B27 positive patients with well‐documented AS and 41 HLA‐B27 positive normal controls. No significant difference in distribution of TAP 1 alleles was noted in comparisons of all AS patients with normal controls. However, AS patients with extraspinal disease were noted to have a significantly increased prevalence of the TAP 1B allele (17.0%) as compared to AS patients without extraspinal disease (2.9%) (P=0.005) or normal controls (1.9%) (P=0.005). Polymorphism at the TAP 1 locus may influence disease outcome in patients wi

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02462.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Two class I major histocompatibility complex (MHC) proteins with molecular masses of 43‐ and 39‐kDa were identified in the cell surface membranes of normal woodchucks using a newly developed anti‐woodchuck class I monoclonal antibody (mAb) B1b.B9 and immuno‐blotting. B1b.B9 was generated by immunizing mice with viable wood‐chuck peripheral blood mononuclear cells and was selected for anti‐class I MHC reactivity using a cellular enzyme–linked immunoassay, indirect immunofluorescence on tissue sections and flow cytofluorimetry. The distribution pattern of class I MHC antigen on woodchuck lymphoid cells was found to be similar to that reported in other species. Also, the antigen expression on normal woodchuck hepatocytes was comparable to that observed on normal human liver parenchymal cells; thus, the antigen was not detected on hepatocytes by staining of liver tissue sections, but was found by indirect immunofluorescence staining of isolated liver cells. Western blot analysis of the plasma membranes from normal woodchuck hepatocytes revealed the presence of a single species of class I MHC heavy chain protein with a molecular mass of 43‐kDa, whereas splenocyte plasma membranes showed intense expression of a 43‐kDa species, as well as the presence of a 39‐kDa protein. The 39‐ and 43‐kDa proteins were extracted with Triton X‐114 to the hydrophobic protein phase, suggesting that they both contain a hydrophobic transmembrane domain. The data obtained indicate that the B1b.B9 identifies a nonpolymorphic epitope of woodchuck class I MHC heavy chains, providing an important reagent for the study of the pathogenesis of hepatitis B virus infec

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02463.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02464.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02465.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1995.tb02466.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY