Description of the Novel Allele HLA-B*44:418, Identified in a Bone Marrow Donor.

The new HLA-B*44:418 allele showed one non-synonymous nucleotide difference compared with the HLA-B*44:05:01:01 allele in codon 12.

Effect of ACE mutations on blood ACE phenotype parameters.

Background: Analysis of existing mutations of Angiotensin-I-Converting Enzyme (ACE) led us to hypothesize that the carriers of damaging ACE mutations (accompanied by low ACE levels) could be at risk for the development of late-onset Alzheimer's disease (AD).

Methodology/principal Findings: We quantified blood ACE levels in EDTA-containing plasma from 15 patients with 11 different heterozygous ACE mutations and estimated the effects of these mutations on ACE phenotypes, using a set of mAbs to ACE and two ACE substrates. We confirmed prior observations that the relatively frequent Y215C mutation in the N domain of ACE (present in ~1% of the population) is associated with both Alzheimer's disease (AD) and reduced plasma levels of ACE (~50% of controls), indicating that it likely results in a transport-deficient protein.

Microbiome markers in HPV-positive and HPV-negative women of reproductive age with ASCUS and SIL determined by V4 region of 16S rRNA gene sequencing.

Introduction: Human papilloma virus (HPV) is the most common sexually transmitted infection worldwide. Cervicovaginal microbiota plays an important role in HPV infection and is associated with the development of squamous intraepithelial lesions (SIL). The natural history of cervical cancer involves reversible changes in the cervical tissue from a normal state, in which no neoplastic changes are detected in the squamous epithelium, to varying states of cellular abnormalities that ultimately lead to cervical cancer.

Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study.

IgA nephropathy (IgAN) is an autoimmune disorder which is believed to be non-monogenic. We performed an exome-wide association study of 70 children with IgAN and 637 healthy donors. The HLA allele frequencies were compared between the patients and healthy donors from the bone marrow registry of the Pirogov University.

The Search of Association of HLA Class I and Class II Alleles with COVID-19 Mortality in the Russian Cohort.

HLA genes play a pivotal role in the immune response via presenting the pathogen peptides on the cell surface in a host organism. Here, we studied the association of HLA allele variants of class I (loci A, B, C) and class II (loci DRB1, DQB1, DPB1) genes with the outcome of COVID-19 infection. We performed high-resolution sequencing of class HLA I and class II genes based on the sample population of 157 patients who died from COVID-19 and 76 patients who survived despite severe symptoms.

Description of the novel HLA-C allele, HLA-C*12:376, identified in a deceased COVID-19 patient.

The new allele HLA-C*12:376 showed one nonsynonymous nucleotide difference compared with the C*12:03:01:01 allele in codon 30.

Description of the novel allele HLA-B*07:473, identified in a bone marrow donor.

The new HLA-B*07:473 allele showed two nonsynonymous nucleotide differences compared with the HLA-B*07:02:01:01 allele in codon 116.

Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.

Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis. It is important for facilities providing genetic services to keep track of changes in the technology of exome capture in order to maximize throughput while reducing cost per sample. In this study, we focused on comparing the newly released exome probe set Agilent SureSelect Human All Exon v8 and the previous probe set v7.

System analysis of the sequencing quality of human whole exome samples on BGI NGS platform.

Human exome sequencing is a classical method used in most medical genetic applications. The leaders in the field are the manufacturers of enrichment kits based on hybridization of cRNA or cDNA biotinylated probes specific for a genomic region of interest. Recently, the platforms manufactured by the Chinese company MGI Tech have become widespread in Europe and Asia.

Description of a novel allele HLA-DRB1*16:02:10, identified in a bone marrow donor.

The new allele HLA-DRB1*16:02:10 showed one synonymous nucleotide difference with HLA-DRB1*16:02:01:01 in codon 58.

A novel allele, HLA-C*15:227, identified when typing COVID-19 patients.

HLA-C*15:227 differs from HLA-C*15:02:01:01 by a single nonsynonymous change (368A → G Tyrosine 99 to Cysteine).

The novel HLA-DQB1*05:02:24 allele, identified in a Russian bone marrow donor.

The new allele HLA-DQB1*05:02:24 showed one synonymous nucleotide difference with HLA-DQB1*05:02:01:01 in codon 140.

HLA-A*11:382N, a novel HLA-A null allele identified by next-generation sequencing.

The new allele HLA-A*11:382N showed one nucleotide difference with HLA-A*11:01:01:01 at codon 254 (nonsense mutation).

HLA-C*06:287, a novel HLA-C*06 allele identified by sequence-based typing.

The new allele HLA-C*06:287 showed one nucleotide difference with HLA-C*06:02:01:01 at codon 219 (CGG/CAG).

Description of a novel HLA-A allele, HLA-A*03:365, identified in a bone marrow donor from Russia.

The novel allele HLA-A*03:365 showed a single nucleotide difference from A*03:01:01:01 where 135 Alanine is changed to Proline.