ABSTRACT
The novel HLA-DQB1*0636 allele differs from HLA-DQB1*060401 in one nucleotide substitution at codon 186 in exon 3.
Subject(s)
Amino Acid Substitution , HLA-DQ Antigens/genetics , White People/genetics , Alleles , Base Sequence , Female , HLA-DQ beta-Chains , Humans , Male , Molecular Sequence Data , Sequence AlignmentABSTRACT
We confirm allele HLA-A*3116 that we found in the family of a leukaemia patient of mixed Caucasian and Caribbean origin by sequence based typing. This allele is closest related to HLA-A*310102 with one nucleotide replacement at position 221 (C>T) leading to an amino acid substitution at position 50 of the mature protein from proline to leucine. As the amino acid at position 50 in the alpha 1 domain is part of the peptide-binding region, this change could be relevant for the functionality in peptide presentation.
Subject(s)
HLA-A Antigens/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/ethnology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Alleles , Amino Acid Substitution , Base Sequence , Black People , Caribbean Region , Female , Humans , Leucine/chemistry , Male , Molecular Sequence Data , Proline/chemistry , Sequence Homology, Nucleic Acid , White PeopleABSTRACT
The novel allele human leucocyte antigen (HLA)-Cw*0746 differs from HLA-Cw*070101 by three nucleotide exchanges at codons 45 and 66 in exon 2 and at codon 99 in exon 3.
Subject(s)
HLA-A Antigens/genetics , HLA-B Antigens/genetics , HLA-C Antigens/genetics , Leukemia/genetics , Polymorphism, Genetic , Alleles , Base Sequence , HLA-B7 Antigen , Haplotypes , Humans , Leukemia/immunology , Molecular Sequence Data , Sequence Homology, Nucleic Acid , White People/geneticsABSTRACT
The novel allele HLA-B*0828 differs from HLA-B*080101 by three nucleotide exchanges at codon 113, 114, and 116 in exon 3.
Subject(s)
HLA-B Antigens/genetics , Alleles , Base Sequence , Bone Marrow , HLA-B Antigens/chemistry , Humans , Molecular Sequence Data , Sequence Alignment , Tissue DonorsABSTRACT
A 45-year-old man was admitted with fever and elevated pancreas enzymes 6 months after simultaneous pancreas-kidney transplantation (SPKT). Function of the allografts was normal. Bacterial and fungal infections were excluded, while Epstein-Barr virus (EBV)-polymerase chain reaction (PCR) was positive. However, screening for EBV-associated lymphoma was negative. EBV infection did not respond to antiviral therapy. After an 18F-Fluorodeoxyglucose positron emission tomography positive signal and an abnormal computed tomography scan of the pancreas transplant, a biopsy revealed a diffuse large monomorphic B-cell lymphoma, which was confined to the grafted organ. Its origin was assigned to the donor by microsatellite analysis. Reduction of immunosuppression and immunotherapy with rituximab was unsuccessful. After 10 weeks, the patient developed an acute hemolytic uremic syndrome which required explantation of the allografts. Subsequent to the intervention, fever disappeared, EBV DNA became undetectable and lymphoma screening remained negative. In posttransplant lymphoproliferative disorder of donor origin after SPKT, transplantectomy may be a curative therapy.
Subject(s)
Burkitt Lymphoma/etiology , Kidney Transplantation/adverse effects , Pancreas Transplantation/adverse effects , Adult , Biopsy , Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/virology , DNA, Viral/analysis , Diabetes Mellitus, Type 1/surgery , Diagnosis, Differential , Follow-Up Studies , Herpesvirus 4, Human/genetics , Humans , Male , Middle Aged , Positron-Emission Tomography , Tomography, X-Ray Computed , Transplantation, HomologousABSTRACT
This report describes the HLA-A*29 allele (A*2910) that has been identified by sequence-based typing in an 8-year-old Turkish female with leukaemia during search for a family-related stem cell donor. The allele is characterized by a nucleotide substitution (Guanine to Adenine) in exon 3 at position 258, leading to an amino acid exchange from glutamic acid to lysine at position 177. From family analysis and sequence comparison, the HLA-A*2910 allele has arisen from intergenic recombination with HLA-C. Structurally, the amino acid exchange at position 177 is probably functionally inactive due to the location of this amino acid exchange in the loop connecting the alpha(2) and alpha(3) domains.
Subject(s)
Alleles , HLA-A Antigens/genetics , HLA-C Antigens/genetics , Recombination, Genetic , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Child , Exons , Female , Humans , Molecular Sequence Data , Protein Structure, Tertiary , TurkeyABSTRACT
This report describes two novel HLA class II alleles, HLA-DRB1*0826 and HLA-DQB1*0627, that have been identified in two unrelated voluntary blood stem cell donors of Caucasian origin. HLA-DRB1*0826 is characterized by a nucleotide substitution (G to T) in exon 2 at position 163, leading to an amino acid exchange from argenine to leucine. The donor phenotype is HLA-A*0301,*2902; B*3501,*4403; Cw*0401,*1601; DRB1*0101,*0826; DQB1*0402, *0501. The HLA-DQB1*0627 alleles contain a nucleotide substitution at position 184 (T to C) resulting in an amino acid exchange from tyrosine to histidine. Family segregation analysis revealed that the HLA-DQB1*0627 allele belongs to the haplotype A*0101, B*1517, Cw*0701, DRB1*1302, DQB1*0627. The donor phenotype is HLA-A*0101; B*0801,*1517; Cw*0701; DRB1*1302,*1501; DQB1*0602,*0627.
Subject(s)
Alleles , Blood Donors , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Histocompatibility Antigens Class II/genetics , Membrane Glycoproteins/genetics , Stem Cells/immunology , White People/genetics , Base Sequence , Gene Frequency , HLA-DQ Antigens/blood , HLA-DQ beta-Chains , HLA-DR Antigens/blood , HLA-DRB1 Chains , Haplotypes , Humans , Membrane Glycoproteins/blood , Molecular Sequence Data , Pedigree , Sequence Homology, Nucleic AcidABSTRACT
The COBAS Amplicor CMV Monitor test (Roche Diagnostics), an automated polymerase chain reaction (PCR) assay for the quantification of cytomegalovirus (CMV) DNA in plasma samples, was evaluated in a routine diagnostic laboratory. Using cell culture-derived CMV and CMV-negative human plasma, the linear detection range of the assay as well as its intra-and inter-assay variabilities were assessed. The study design allowed distinguishing variations in results related to amplification and detection from those caused by differences in the efficiency of DNA extraction. The assay was able to identify the majority of samples correctly as positive with CMV DNA concentrations above the limit of detection. However, the reported values were often twofold or more different from the (theoretical) input, which could be explained partly by inefficient DNA extraction. The following values were computed for the coefficients of determination R(2): inter-assay variability excluding DNA extraction, R(2)=0.982; including DNA extraction, R(2)=0.977; intra-assay variability excluding DNA extraction, R(2)=0.992; including DNA extraction, R(2)=0.992. On balance, the test has acceptable within-run and between-run reproducibility. It therefore allows the comparison of results obtained at different time-points as well as in different laboratories, e.g. in multi-centre studies.