ABSTRACT
The HLA-C*16:97 allele was found in multiple donors from the Bone Marrow Registry in South Tyrol.
Subject(s)
Alleles , Exons , HLA-C Antigens/genetics , Polymorphism, Single Nucleotide , Registries , Tissue Donors , Amino Acid Substitution , Codon/chemistry , Gene Expression , Gene Frequency , Genotype , HLA-C Antigens/immunology , Hematopoietic Stem Cell Transplantation , Histocompatibility Testing , Humans , Italy , Polymerase Chain Reaction , Sequence Analysis, DNAABSTRACT
A novel allele, officially named B*18:80, was detected in a Caucasoid individual by polymerase chain reaction-sequence-specific primers and SBT. The new allele differs from B*18:01:01 at two nucleotidic positions in codon 24 at exon 2.
Subject(s)
Alleles , Exons , HLA-B Antigens/genetics , Adult , Base Sequence , Bone Marrow Transplantation , Codon , Gene Expression , HLA-B Antigens/immunology , Histocompatibility Testing , Humans , Italy , Male , Molecular Sequence Data , Point Mutation , Sequence Alignment , Tissue DonorsABSTRACT
The newly detected HLA-B*08:111 allele shows two nucleotide differences from B*08:01:01 in codons 113 and 114.
Subject(s)
HLA-B8 Antigen/genetics , Histocompatibility Testing , Alleles , Base Sequence , Bone Marrow Transplantation , DNA Primers/genetics , Exons/genetics , Genotype , Humans , Italy , Male , Molecular Sequence Data , Polymerase Chain Reaction , Sequence Alignment , Tissue DonorsABSTRACT
Erectile dysfunction (ED) is often associated with cardiovascular disease (CVD) and the risk of sildenafil-induced orthostatic hypotension (OH) in subjects with CVD is a matter of concern. We describe our experience in using the tilt test (TT) with continuous plethysmography to evaluate the occurrence of OH in patients with CVD and ED after a test dose of sildenafil. When sildenafil was added on top of their usual pharmacological treatment two patients out of 32 (6.2%) developed asymptomatic OH, with a maximum blood pressure fall of 40/20 mm Hg. The low prevalence and modest clinical relevance of OH in our high-risk population coupled with the known high sensitivity and reproducibility of the TT seem to suggest that sildenafil is haemodynamically safer than is generally believed even when added on top of vasoactive treatment. These findings should be put into perspective against the growing wealth of evidence that PDE5 inhibitors may have therapeutic potential for a number of CV conditions.
Subject(s)
Erectile Dysfunction/drug therapy , Hypotension, Orthostatic/chemically induced , Hypotension, Orthostatic/physiopathology , Piperazines/therapeutic use , Population Surveillance , Sulfones/therapeutic use , Aged , Blood Pressure/drug effects , Blood Pressure/physiology , Erectile Dysfunction/physiopathology , Humans , Hypotension, Orthostatic/diagnosis , Male , Middle Aged , Phosphodiesterase 5 Inhibitors/adverse effects , Phosphodiesterase 5 Inhibitors/therapeutic use , Piperazines/adverse effects , Population Surveillance/methods , Purines/adverse effects , Purines/therapeutic use , Risk Factors , Sildenafil Citrate , Sulfones/adverse effects , Supine Position/physiology , Tilt-Table Test/methods , Vasodilator Agents/adverse effects , Vasodilator Agents/therapeutic useABSTRACT
Uncertainty still exists on the role of polymorphisms outside the HLA-DRB1 binding site or inside the HLA-DRB3 binding groove in unrelated hematopoietic SCT (HSCT). The ideal model to solve the conundrum consists of the transplants mismatched for HLA-DRB1*14:01/*14:54 and/or for HLA-DRB3*02:01/*02:02. A task force was set up in Italy to recruit transplanted pairs defined as HLA-DRB1*14:01 before 2006, the year crucial for the proper definition of the HLA-DRB1*14:54 allele in molecular biology. Out of 2723 unrelated pairs, 189 transplanted in Italy from 1995 to 2006 were HLA-DRB1*14:01 positive; 103/189 pairs with good historical DNA were retyped for HLA-DRB1*14 and HLA-DRB3 at-high resolution level; 31/103 pairs had HLA-DRB1*14 and/or HLA-DRB3 mismatched; 99/103, having complete clinical data, underwent statistical analysis for OS, TRM, disease-free survival and acute and chronic GvHD. No significant involvement of HLA-DRB1*14:01/*14:54 or HLA-DRB3*02:01/*02:02 mismatches was found, either alone or combined. Our findings suggest that disparities at exon 3 of the HLA-DRB1 gene seem unlikely to influence the outcome after HSCT. The same may be envisaged for HLA-DRB3(*)02:01 and (*)02:02 alleles which, although differing in the Ag binding site, seem unable to modulate an appreciable immune response in an HSCT setting.
Subject(s)
HLA-DRB1 Chains/immunology , HLA-DRB3 Chains/immunology , Hematopoietic Stem Cell Transplantation/methods , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Histocompatibility Testing , Humans , Infant , Male , Middle Aged , Young AdultABSTRACT
In this paper, we characterize the novel human leukocyte antigen (HLA)-DQB1*0322. We found this novel allele in a hematopoietic stem cell donor. The donor and the recipient were high-resolution HLA retyped using sequence-based typing. Both, the female patient and her donor were previously typed HLA identical, which was confirmed with the exception of the novel DQB1 allele. The novel allele is characterized by a nucleotide exchange 'G' to 'A' at position 485 in exon 3. This affected codon 130-arginine (CGG), which is replaced by glutamine (CAG) in the new allele DQB1*0322. The transplant was performed because of an acute myeloid leukemia at first remission.
