A5028816656- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- Blood disorders and treatments
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Parvovirus B19 Infection Studies
- Pancreatitis Pathology and Treatment
- Monoclonal and Polyclonal Antibodies Research
- Pancreatic and Hepatic Oncology Research
- Chronic Lymphocytic Leukemia Research
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Neuroendocrine Tumor Research Advances
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Renal Transplantation Outcomes and Treatments
- Cancer-related gene regulation
- Immune Cell Function and Interaction
- Iron Metabolism and Disorders
- HIV Research and Treatment
- Kruppel-like factors research
- Genetic Syndromes and Imprinting
- Hereditary Neurological Disorders
New York Blood Center
2014-2024
RELX Group (Netherlands)
2020
Genomics (United Kingdom)
2015
American Red Cross
2003-2013
Immucor (United States)
2012
Gamma Therapeutics (United States)
2010
University Gastroenterology
2010
Hy-Line (United States)
2008-2009
Mayo Clinic in Arizona
2005
University of Tennessee at Knoxville
2001
Background Extended red blood cell ( RBC ) antigen matching is recommended to limit alloimmunization in patients with sickle disease SCD ). DNA ‐based testing predict group phenotypes has enhanced availability of antigen‐negative donor units and improved typing transfused patients, but replacement routine serologic for non‐ ABO antigens molecular not been reported. Study Designs Methods This study compared the historical obtained by hemagglutination methods genotype predictions 494 . For...
Abstract Background Red cell alloimmunization remains a challenge for individuals with sickle disease (SCD) and contributes to increased risk of hemolytic transfusion reactions associated comorbidities. Despite prophylactic serological matching ABO, Rh, K, red persists, in part, due high frequency variant RH alleles patients SCD Black blood donors. Study Design Methods We compared genotypes rates 342 pediatric young adult on chronic therapy exposed >90,000 units at five sites across the...
BACKGROUND Genotyping has expanded the number red blood cell (RBC) and platelet (PLT) antigens that can readily be typed, but often represents an additional testing cost. The analysis of existing genomic data offers a cost‐effective approach. We recently developed automated software (bloodTyper) for determination RBC PLT from whole genome sequencing. Here we extend algorithm to exome sequencing (WES). STUDY DESIGN AND METHODS Whole was performed on samples 75 individuals. WES‐based...
The partial D phenotype DIIIa was originally reported to be associated with 455A>C in Exon 3, 602C>G 4, and 667T>G 5. Other alleles these changes were subsequently identified designated DIII Types 5, 6, 7, as they had additional alterations. observation that DNA samples the more than those motivated us reanalyze probands (BP DJ) from original study. We also studied clarify RHD background establish RHCE.
Summary RH diversity among patients and donors contributes to Rh immunization despite serologic Rh‐matched red cell transfusions. Anti‐D can occur in D+ with RHD variants that encode partial D antigens. has also been reported conventional transfused primarily units from Black who frequently have variant . We report 48 anti‐D 690 individuals sickle disease, categorized here as expressing D, or antigen encoded by RHD*DAU0 formed a greater proportion of occurred after fewer unit exposures,...
ABSTRACT Polymorphic allozyme loci were used to estimate outcrossing rates for three tree species from a disturbed dry forest in southern Costa Rica. Estimates of the multilocus Cedrela odorata and Jacaranda copaia 0.969 0.982, respectively, suggest that these may be self‐incompatible. The subcanopy Stemmadenia donnell‐smithii also demonstrated little self‐fertilization based on an estimated rate 0.896. Significant heterogeneity pollen allele frequencies among maternal trees was detected at...
BACKGROUND: RH43 (Crawford) is encoded by RHCE * ce with nucleotide changes 48G>C, 697C>G, and 733C>G ( ceCF ). We investigated the Rh antigen expression antibody specificities in four patients this allele. STUDY DESIGN AND METHODS: Hemagglutination tests, DNA extraction, polymerase chain reaction (PCR)‐restriction fragment length polymorphism, allele‐specific PCR, reticulocyte RNA isolation, reverse transcription‐PCR cDNA analyses, cloning, sequencing were performed standard...
ABO compatibility is important for kidney transplantation, with longer waitlist times blood group B transplant candidates. However, kidneys from non-A1 (eg, A2) subtype donors, which express less A antigen, can be safely transplanted into recipients. subtyping routinely performed using anti-A1 lectin, but DNA-based genotyping also possible. Here, we compare lectin and testing. Lectin genotype was on 554 deceased donor samples at 2 laboratories. The findings were supported by additional data...
Background RHCE*ceMO has nucleotide changes 48 G > C and 667 T , which encode, respectively, 16 ys 223 P he associated with altered expression of e antigen. RHD*DAU0 Nucleotide 1136 encodes 379 M et normal levels D . We compiled serologic DNA testing data on samples to determine the red blood cell ( RBC ) antigen expression, antibody specificity, RHD association, prevalence in A frican‐ merican persons. Study Design Methods Serologic was performed by standard methods. Genomic used for...
Chronically transfused patients with thalassemia are at risk for red cell alloimmunization. No studies have specifically examined alloimmunization after implementation of prophylactic Rh (D, C, E) and K matched cells in a racially diverse population donors. This retrospective study antibodies among 40 chronically (Asian, White, Black, Indian, Middle Eastern) receiving mean 174 serologic RhD, E, units. We the patients' RH genotype, as well donor race phenotypes over 3 transfusion events...
Abstract The Vel blood group antigen is expressed on the red cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines rare Vel-negative phenotype. Still, Vel-positive individuals show great variability expression, creating a risk typing errors and transfusion reactions. We fine-mapped regulatory region located intron 2 Swedish donors, observed strong correlation between expression rs1175550 as well with previously unreported...
Abstract RHD and RHCE genes encode Rh blood group antigens exhibit extensive single-nucleotide polymorphisms chromosome structural changes in patients with sickle cell disease (SCD). RH variation can drive loss of antigen epitopes or expression new epitopes, predisposing SCD to alloimmunization. Serologic typing is limited common antigens, necessitating a genetic approach detect variant expression. We developed novel algorithm termed RHtyper for genotyping from existing whole-genome...
In the Rh blood group system, variant RhD and RhCE express several partial antigens. We investigated RH in samples with DIVa that demonstrated weak variable reactivity anti-C.Standard hemagglutination techniques, polymerase chain reaction-based assays, sequencing were used.DNA analysis showed six red cell (RBC) inconsistent anti-C lacked RHCE*C, but all had RHD*DIVa, which encodes D Go(a) . then tested RBCs from 19 Go(a+) cryopreserved (confirmed to have RHD*DIVa) four observed reactions....
BACKGROUND RHCE*ceAG has the nucleotide change c.254C>G, which encodes p.Ala85Gly associated with altered expression of e antigen. We analyzed serologic and DNA‐based testing data on samples to determine its effect antigen expression, linkage RHD , prevalence in African Americans. STUDY DESIGN AND METHODS Serologic was performed by standard methods. Genomic DNA used for polymerase chain reaction–restriction fragment length polymorphism, RH‐specific exon sequencing, zygosity, Rh‐cDNA...
In the Rh blood group system, RHD gene is bordered by two homologous DNA sequences called upstream and downstream Rhesus boxes. The most common cause of D− phenotype in people European descent a deletion region, which results hybrid combination PCRbased testing can detect presence or absence box to determine zygosity. PCR on fathers stratify risk for haemolytic disease fetus new born mothers with anti-D antibodies. Red cells genomic were isolated from 37 individuals undergoing whole genome...
BACKGROUND Although P1 and Xg a are known to be associated with the A4GALT XG genes, respectively, genetic basis of antigen expression has been elusive. Recent reports link both nucleotide changes in promotor regions antigen‐negative phenotypes due disruption transcription factor binding. STUDY DESIGN AND METHODS Whole genome sequencing was performed on 113 individuals as part MedSeq Project serologic RBC typing for (n = 77) 15). Genomic data were analyzed by two approaches, frequency...
The JAL antigen (Rh48) was discovered more than 30 years ago when it caused hemolytic disease of the fetus and newborn in an African American family. A decade later found to cause a Caucasian presence same low-prevalence two different ethnic groups is rare, but additional JAL+ both subsequently identified. This study undertaken investigate RH gene(s) responsible for expression determine structural relationship between other Rh antigens.Samples from 17 people were included: 2 Caucasian, 6...
The Jk(a-b-) null phenotype is not common but more prevalent in Polynesian and Asian persons appears to be rare blacks. We determined the molecular basis for an African American family. DNA testing of samples from random American, Caucasian, Brazilian blacks was done estimate allele frequency.Standard methods were used red blood cell (RBC) typing. isolated white cells, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) amplification sequencing coding regions JK...