RESUMO
A panel of homozygous typing cells was employed for biochemical definition of all known HLA-C locus antigens from Cw1 through Cw11. Each HLA-C antigen yielded, after precipitation with one of the monoclonal antibodies W6/32, 4E, or HC10, a specific banding pattern on one-dimensional isoelectric focusing gels. In addition, two biochemical subtypes of Cw1 and Cw7 could be identified. These biochemical HLA-C "splits" were characterized not only by different isoelectric points but also by strong linkage disequilibriums with certain HLA-B antigens.
Assuntos
Antígenos HLA-C/análise , Anticorpos Monoclonais , Epitopos/análise , Antígenos HLA-C/genética , Antígenos HLA-C/imunologia , Humanos , Focalização IsoelétricaRESUMO
In order to define frequencies and associations of biochemically defined HLA-A and -B specificities and their variants and subtypes in a Caucasian population, biochemical HLA typing was performed in a panel of 112 Austrians. Already known rare variants of HLA-A2, A3, A30, Aw33 and B39 and the more frequent subtypes of HLA-B27, B35, B44 and, in addition, a so far unknown variant of HLA-B18 were present in the panel. Family segregation analyses of the biochemically defined HLA class I variants revealed that they could be found only in certain rare haplotypes, most of them in high linkage disequilibrium. The basic variant of HLA-A30, for example, obviously occurred only in the HLA-A30, B49, Cw7 haplotype, similar to the Aw33 acidic variant, which was exclusively found in the Aw33, Bw58, Cw3 haplotype. None of the biochemical variants was found in frequent common haplotypes.
Assuntos
Bioquímica/métodos , Teste de Histocompatibilidade/métodos , Variação Genética , Antígenos HLA-A/análise , Antígenos HLA-A/genética , Antígenos HLA-B/análise , Antígenos HLA-B/genética , Humanos , Estatística como Assunto , População BrancaRESUMO
Monoclonal antibodies (mAbs) W6/32, HC10, and 4E were used to precipitate class I antigens from 21 selected individuals with at least one HLA-C "blank" allele. In 19 of these individuals, characteristic HLA-C banding patterns which could be precipitated by all three HLA class I mAbs were observed on one-dimensional isoelectric focusing gels--obviously the gene products of HLA-C "blank". At least four allelic HLA-C "blank" gene products with different isoelectric points could be discerned. All of them segregated with HLA-C "blank" haplotypes in informative families; two of them were associated with HLA-B51, one with HLA-B38, and one with HLA-B18. Reactivity of the HLA-C "blank" heavy chains with mAb W6/32 indicates that they are able to associate with beta-2 microglobulin, and hence are most probably expressed at the cell surface.
Assuntos
Alelos , Antígenos HLA-C/genética , Anticorpos Monoclonais , Antígenos HLA-C/análise , Humanos , Focalização Isoelétrica , Peptídeos/análiseRESUMO
Histocompatibility antigens play a certain role in the development of testicular tumours. 151 patients with testicular cancer (86 non-seminomatous germ cell tumours--NSGCT--and 65 pure seminoma) were typed for the HLA-antigens of the A, B, C and DR locus. 24 patients of the pure seminoma group and 50 patients of the NSGCT group had an elevated serum HCG level preoperatively. The antigen DR-5 was elevated in the seminoma group whereas the incidence of B-13 was increased in the NSGCT group. In terms of antigen distribution HCG-positive seminoma resembles seminomatous tumours rather than NSGCT.
Assuntos
Gonadotropina Coriônica/sangue , Disgerminoma/imunologia , Antígenos HLA/análise , Antígenos HLA-DR/análise , Neoplasias Embrionárias de Células Germinativas/imunologia , Neoplasias Testiculares/imunologia , Teste de Histocompatibilidade , Humanos , MasculinoRESUMO
In 3 unrelated individuals, a new, so far unknown HLA-B-locus antigen was found. This HLA-B antigen, provisionally termed 'BHT', is recognized by extra reactions with alloantisera against the B5 cross-reactive group. BHT can be clearly discerned from all cross-reactive antigens by one-dimensional isoelectro focusing (1D IEF), as it reveals, on IEF gels, a characteristic, rather neutral double-banding pattern different from all known HLA class I bands. The BHT banding pattern, which is identical in all 3 BHT-positive individuals, segregates with the haplotype A28, BHT, Cw7, DRw6.
Assuntos
Antígenos HLA-B/análise , Genótipo , Antígenos HLA-B/genética , Haplótipos , Soros Imunes , Focalização IsoelétricaRESUMO
Another case of an HLA-B/HLA-C recombination is presented which shows that the locus HLA-C is situated between HLA-A and HLA-B.
Assuntos
Antígenos HLA/genética , Recombinação Genética , Troca Genética , Genótipo , Antígenos HLA-B , Antígenos HLA-C , Humanos , Teste de Cultura Mista de Linfócitos , FenótipoAssuntos
Síndrome de Down/genética , Antígenos HLA/genética , Adulto , Feminino , Frequência do Gene , Homozigoto , Humanos , Lactente , Idade Materna , Gravidez de Alto RiscoAssuntos
Frequência do Gene , Antígenos HLA/genética , Alelos , Áustria , Feminino , Genes , Ligação Genética , Humanos , Masculino , LinhagemRESUMO
A further case of blood chimerism in male twins concerning red and white cells is described. The erythrocyte chimerism could be detected by 5 out of 16 genetic marker systems and the lymphocyte chimerism by the analysis of autosomal polymorphisms of peripheral blood lymphocytes.
Assuntos
Sistema ABO de Grupos Sanguíneos , Quimera , Genes , Gêmeos , Adulto , Feminino , Antígenos HLA/genética , Hemaglutinação , Humanos , Cariotipagem , Masculino , Linhagem , Polimorfismo Genético , GravidezRESUMO
Phenotype and gene frequencies of the GLO I polymorphism in Vienna are given. No exception to the postulated rule of inheritance could be found in 23 families with 51 children and 132 mother-child pairs. Linkage with the HLA system is confirmed, but no linkage disequilibrium between GLO alleles and HLA-A, B, C genes was detected. The use of the GLO I polymorphism in paternity cases is discussed.
