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The sequence of the novel allele is identical to HLA‐DRB1*16:02:01 except for one nucleotide change at nt203 (G→A), resulting in a coding change, 39 R (CGC)→H (CAC).
Research in HLA as in any other field depends on information. Different groups have generated generic and specific resources and tools to support this research. The present review describes a qualified subset of these resources, which should cover the most important starting points for research in the HLA field. It discusses access to HLA allele sequences, allele frequencies, continues with general...
In Japanese, Koreans and Caucasians, narcolepsy/hypocretin deficiency is tightly associated with the DRB1*15:01‐DQA1*01:02‐DQB1*06:02 haplotype. Studies in African‐Americans suggest a primary effect of DQB1*06:02, but this observation has been difficult to confirm in other populations because of high linkage disequilibrium between DRB1*15:01/3 and DQB1*06:02 in most populations. In this study, we...
Current human leukocyte antigen (HLA) DNA typing methods such as the sequence‐based typing (SBT) and sequence‐specific oligonucleotide (SSO) methods generally yield ambiguous typing results because of oligonucleotide probe design limitations or phase ambiguity for HLA allele assignment. Here we describe the development and application of the super high‐resolution single‐molecule sequence‐based typing...
Extensive research has shown that aberrant expression of microRNAs (miRNAs) plays an important role in innate and adaptive immune responses. The rs2910164 polymorphism has been identified as a functional variant, which affects the transcription and expression level of miR‐146a and, thereby, contributes to the pathogenesis of several inflammatory and autoimmune diseases. To investigate whether the...
Macaques are commonly used in biomedical research as animal models of human disease. The ABO phenotype of donors and recipients plays an important role in the success of transplantation and stem cell research of both human and macaque tissue. Traditional serological methods for ABO phenotyping can be time consuming, provide ambiguous results and/or require tissue that is unavailable or unsuitable...
Paroxysmal nocturnal haemoglobinuria (PNH) is a haematopoietic disorder characterized by expansion of phosphatidylinositol glycan‐A‐defective progenitor(s). Immune‐dependent mechanisms, likely involving a deranged T cell‐dependent autoimmune response, have been consistently associated with the selection/dominance of PNH precursors. Natural killer (NK) lymphocytes might participate in PNH pathogenesis,...
The human leukocyte antigen HLA‐A*31:22 allele shows a single nucleotide change at position 245 (A > C) of exon 2 from the closest matching allele HLA‐A*31:01:02.
The human leukocyte antigen (HLA)‐B*51 genotype is one of the well‐known genetic factors associated with the development of Behcet's disease. We evaluated three sequence‐specific priming (SSP) assays and one real‐time PCR assay for detecting HLA‐B*51 alleles using 93 whole blood samples, which were genotyped by high‐resolution sequence‐based typing (SBT). All HLA‐B*51 alleles determined by SBT were...
Human leukocyte antigen (HLA) typing was done in 426 Lebanese subjects of 88 families, in which 347 haplotypes were identified. The A, B, C, DRB1, DRB3/4/5, DQB1 and DPB1 loci were typed at high resolution. This study shows that information theory, as originally developed by Claude Shannon in 1948, provides a promising theoretical foundation to study the population genetics of a genetic system like...
Human neutrophil antigens (HNAs) play an important role in a variety of clinical conditions including immune‐mediated neutropenia, non‐hemolytic transfusion reactions, and transfusion‐related acute lung injury. The aim of this study was to investigate the frequency distribution of HNAs‐1 to ‐5 among the Japanese population. We analyzed samples from 570 healthy Japanese by molecular and serologic techniques...
Activated T‐helper type 1 (Th1) lymphocytes induce a cellular type immune response, and Th2 lymphocytes, a humoral or antibody‐mediated type immune response. Soluble CD26 (sCD26) and soluble CD30 (sCD30) are regarded as markers of Th1 and Th2 lymphocyte activation, respectively. Serum from 112 generally healthy pediatric surgical patients and cerebrospinal fluid (CSF) from 39, aged 1–17 years were...
Microsatellite polymorphism in exon 5 of major histocompatibility complex class I chain related gene‐A (MIC‐A) has been implicated in the etiology of autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD). In this study on North Indian population, the MIC‐A5.1 allele, carrying a premature termination codon in transmembrane region, was observed with increased frequency in T1D (29...
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