ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01906.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Extended haplotypes are specific HLA‐B, BF, C2, C4A, C4B and DR allelic combinations that occur at high frequencies and show positive linkage disequilibrium among these highly polymorphic MHC markers. About 30% of all normal caucasian haplotypes are extended, and the matching of two extended haplotypes in unrelated individuals has been shown to match for the determinants of primary mixed lymphocyte reactivity (MLR‐I). In this work we report that the matching of one extended haplotype and a serologically defined HLA‐DR generic type on the second chromosome in unrelated individuals is associated with the absence of mixed lymphocyte reactivity in 15 to 30% of the cases studied. Our results suggest that, for those individuals who carry either one or two extended haplotypes, it is relatively easy to identify an unrelated MLR‐I‐matched subject. However, for individuals lacking at least one extended haplotype, it should be difficult to find an MLR‐I‐matched unre

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01907.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:479 families, each with a proband affected by homozygous β‐thalassemia, were typed for HLA. 224 families with a total of 1020 members were typed for the HLA‐A, B, C, DR and DQ loci and 255 families with 1046 family members, were typed for the HLA‐A, B, and C loci. Altogether, 896 A, B, C, DR and DQ haplotypes and 1020 A, B and C haplotypes were defined. At the same time, 120 healthy unrelated individuals from the same population were typed and used as controls. The analysis of the results was carried out at antigen, allele, haplotype, genotype and sex ratio level with the aim of looking on the one hand, for the existence of heterogeneity between the probands, the unrelated individuals and the healthy siblings and, on the other, for the existence of any distortion whatsoever of the HLA segregation in either the probands or in the healthy siblings in respect of the expected values according to the Mendelian equilibrium. No significant differences were evident between the probands and the controls by the tests carried out at different levels of the HLA system. This leads us to exclude the existence of an association between β‐thalassemia and HLA in the population studied. Moreover, the analysis of the transmission of the alleles, the haplotypes, the genotypes and the sex‐ratio by parents to both affected and to healthy children did not show any clear evidence of segregation distortion in respect of the theoret

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01908.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:State of the art genotyping of HLA class II alleles with group‐specific DNA amplification by the polymerase chain reaction (PCR) (1) and subsequent probing with sequence‐specific oligonucleotides (2–4) is not suitable for typing cadaveric organ donors since the typing procedure takes far more than one working day. We designed specific oligonucleotide primer sets for nested PCR amplification which allowed typing for all serological HLA‐DR specificities (DR1‐DRw18) solely by the detection of amplified DNA in the reaction mixtures after agarose gel electrophoresis. Exon 2 of the DRB genes and a DRw52‐group‐specific part of DRB1 exon 2 was amplified directly from cell lysates without prior DNA extraction. The amplified DNA was subjected to a second round of amplification, which employed a set of 18 nested allele‐ or group‐specific primer pairs. All alleles which have at least a single mismatched base at the terminal 3′‐nucleotide of one primer were completely refractory to amplification. This assay is easy to perform and takes less than one working day to complete. Thus, this method may prove to be suitable for DNA typing of organ donors for prospective HLA‐DR matching i

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01909.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Soluble HLA class I (sHLA‐ABC) and class II (sHLA‐RQP) molecules were quantitated in 16 commercially available immunoglobulin (Ig) preparations by enzyme‐linked immunosorbent assays. Whereas three Ig preparations contained no detectable sHLA‐ABC, all preparations showed concomitant sHLA‐RQP molecules. There was a considerable variability with regard to the individual sHLA concentrations. For sHLA‐RQP the values exceeded that found in human plasma of healthy individuals, suggesting that the extraction procedure may concentrate not only Ig, but also HLA class II molecules. Based on the total dosage of intravenously administered immunoglobulins (i.v.Ig), contaminating sHLA molecules may become immunogenic. Furthermore, sHLA molecules are discussed in terms of participation in the well‐known immuno‐modulating effects of

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01910.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:This study characterizes by serological and molecular methods the HLA class I and class II alleles in a group of celiac disease children, their parents and a control group of Sardinian descent. We found the DR3‐DQw2 haplotype in all patients which was, in almost all cases (84%), associated with the HLA‐A30, B18, DR3, DRw52, DQw2 extended haplotype named “Sardinian haplotype” because of its frequency (12–15%) in this Caucasian population. This is the first time that this DQw2‐linked haplotype has been reported with such a high frequency in CD. However, no different distribution of “Sardinian haplotype” was found comparing CD patients with 91 haplotyped DQw2‐positive controls. This finding indicates that the DQw2 antigen in Sardinians is almost always associated with the A30, B18, DR3, DRw52, DQw2 extended haplotype. The DQA1 and DQB1 second exon sequence analysis of the B18,DR3 and B8,DR3 haplotypes showed the DQA1*0501 and DQB1*0201 alleles which shared the already published sequences. DPB1 subtyping showed the DPB1*0301 allele more frequently (p<0.005) in CD patients but this difference was no longer significant when patients and controls, both heterozygous for the DR3‐DQw2 haplotype, were compared. We suggest that the divergent HLA extended haplotypes and DP allele associated with CD, described in different Caucasian populations, can be explained by the particular DQw2 linkage disequilibrium

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01911.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Polymerase chain reaction (PCR) primers were designed to specifically amplify exon 2 of the DRw52‐associated DRB1 alleles for subsequent typing by sequence‐specific oligonucleotide probe (SSOP) hybridization and chemiluminescent detection. The DRw52 DRB1 group, encoding 22 of the 44 W.H.O. designated DRB1 allelic products, was divided by differential PCR with two polymorphism‐directed forward primers. Based on a polymorphism at codon 13, these forward primers separate the DRw52‐associated alleles into subsets; one comprised of the alleles of DR3/DRw11/DRw6 and the other of DRw8/DRw12/DRB1*1404. The DRB1 alleles in the latter subset were then defined by SSOP hybridization to the amplified DNA. The preferential amplification also resulted in SSOP definition of 15 alleles in the DR3/DRw11/DRw6 subset but some DRw11/DRw13 heterozygous allelic combinations were still unresolved. Two reverse PCR primers specific for the polymorphism at codon 86 were used to obtain amplified material to which SSOP reactivity provided definitive identification of the ambiguous hetero

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01912.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01913.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01914.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

ISSN:0001-2815    

DOI:10.1111/j.1399-0039.1992.tb01915.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY