[Genetic analysis of a blood donor with combined FUT1 and ABO dual blood group gene variants resulting in para-Bombay and A2 subtype blood types and a literature review].

Objective: To investigate the serological and molecular genetic characteristics of a voluntary blood donor with combined FUT1 and ABO blood group gene variants causing para-Bombay and A2 subtype, and to review relevant literature on para-Bombay blood types carrying alleles such as FUT101W.37 and FUT101W.23.

Preparation of subcooled liquid argon and test of its cooling ability.

Subcooled liquid nitrogen and nitrogen slush are often considered for high-speed cooling, but their preparation and maintenance are not easy. To address this issue, a unique device was designed to prepare subcooled liquid argon (SLA) using liquid nitrogen (LN). The cooling process was mathematically modeled to predict the preparation time.

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Background: As is well documented, the para-Bombay phenotype is typically characterized by the reduction or absence of ABH antigens on red blood cells but the presence of corresponding antigens in saliva. Herein, the underlying molecular mechanism of an individual with para-Bombay AB phenotype combined with two novel variants of the FUT1 gene was investigated.

Materials And Methods: ABH antigens and antibodies were detected in the serum of the proband using conventional serological methods.

[Serological characteristics and molecular mechanism of an individual with p phenotype].

Objective: To analyze the serological characteristics and molecular mechanism for an individual with p phenotype.

Methods: An individual with p phenotype upon blood group identification at Jiaxing Blood Center in May 2021 was analyzed. ABO, RhD and P1PK blood groups and irregular antibodies in her serum were identified using conventional serological methods.

A case of McLeod syndrome caused by a nonsense variation c.942G>A in the gene: A case report.

McLeod syndrome is a rare gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male Chinese patient with McLeod syndrome.

[Study of the molecular characteristics of a Bweak phenotype due to a novel c.398T>C variant of the ABO gene].

Objective: To explore the molecular mechanism for an individual with Bweak subtype.

Methods: Serological methods were used to identify the proband's phenotype. In vitro enzyme activity test was used to determine the activity of B-glycosyltransferase (GTB) in her serum.

[Para-Bombay phenotype due to bi-allelic heterozygous base deletions of FUT1 gene].

Objective: To explore the genetic mechanism underlying a case with para-Bombay phenotype.

Methods: The ABO and Lewis phenotype were identified with serological methods. The coding regions of exons 6 and 7 of the ABO and FUT1 genes were amplified with PCR and directly sequenced.

The novel HLA-DRB1*12:01:10 allele was identified by next-generation sequencing.

HLA-DRB1*12:01:10 differs from HLA-DRB1*12:01:01:01 by one nucleotide substitution in exon 4.

The Significance of Genotyping and Characteristic Analysis in Chinese RhD Variant Individuals.

Background: RhD is the most important and complex blood group system because of its highly polymorphic and immunogenic nature. RhD variants can induce immune response by allogeneic transfusion, organ transplantation, and fetal immunity. The transfusion strategies are different for RhD variants formed by various alleles.

Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.

Background: Nucleotide mutations in the ABO gene may reduce the activity of glycosyltransferase, resulting in lower levels of A or B antigen expression in red blood cells. Six known splice sites have been identified according to the database of red cell immunogenetics and the blood group terminology of the International Society of Blood Transfusion. Here, we describe six distinct splice site variants in individuals with ABO subtypes.

[Identification of a glycosyltransferase allele associated with Bw subtype and analysis of the protein structure].

Objective: To explore the molecular basis for an individual with Bw subtype.

Methods: Routine serological reactions were used to determine the surface antigens of erythrocytes and antibodies in serum. PCR-sequence-based typing (PCR-SBT) was used to analyze the coding regions of the ABO gene and erythroid-specific regulatory element in its intron 1.

[Molecular characterization of a recombination allele of ABO blood group].

Objective: To analyze the molecular characteristics of a recombinant allele of the ABO blood group.

Methods: The ABO phenotype was determined with the tube method. The coding regions of the ABO and FUT1 genes were analyzed by PCR-sequence based typing.

Mechanism evaluation for an amino acid substitution p.Y246C of B-glycosyltransferase enzyme with Bweak phenotype.

Background: The amino acid substitutions caused by ABO gene variants are usually predicted to impact the glycosyltransferase function. Here, the effect of an amino acid substitution in the vicinity of the catalytic active region of the B-glycosyltransferase was explored in vitro and in silico study, which is important for further recognizing the ABO subgroup.

Methods: The ABO serological tests were performed by the routine methods.

Molecular Basis of ABO Variants Including Identification of 16 Novel Subgroup Alleles in Chinese Han Population.

Introduction: The characteristic of ABO blood subgroup is crucial for elucidating the mechanisms of such variant phenotypes and offering useful information in blood transfusion.

Methods: In total, 211 ABO variants including part of available family members were investigated in this study. The phenotypes of these individuals were typed with serologic methods.

ABO antigen levels on platelets of normal and variant ABO blood group individuals.

Although differential expression of ABO antigens on platelets is related to recipients' platelet recovery and neonatal alloimmune thrombocytopenia in ABO-incompatible transfusion and pregnancy, the expression of ABO antigens on platelets in normal and variant ABO blood group individuals is rarely reported. Here, we analyzed the expression of ABO antigens on platelets in a cohort of 515 individuals with normal and variant ABO. The variants were also genotyped for and/or loci to distinguish inherited or acquired ABO variants.

[Study of the molecular basis for an individual with Bel variant due to deletion of B glycosyltransferase gene].

Objective: To explore the molecular basis of an individual with Bel variant of the ABO blood group.

Methods: The ABO antigen and serum antibody of the individual were detected by serological method. All coding regions and flanking introns of the ABO gene were amplified with PCR and sequenced bidirectionally.

[Study of the molecular basis of an individual with Aw43 subtype of the ABO blood group].

Objective: To explore the molecular basis of an individual with A subtype of the ABO blood group.

Methods: The ABO antigen and serum antibody of the proband and his parents and sister were detected by a serological method. The whole coding regions of the ABO gene were amplified by PCR and subjected to bidirectional sequencing.

[Study of in vitro expression of human platelet ITGB3 gene nonsense mutation c.1476G>A].

Objective: To explore the function of a novel nonsense mutation c.1476G>A of ITGB3 gene using an in vitro expression system.

Methods: An eukaryotic expression vector containing ITGB3 c.