each is represented by a great many alleles within the humangene pool. These alleles, like those of theABO blood group system, are expressed in codominant fashion. Because of the large number of alleles at each HLA locus, there is an extremely low probability of any two individuals (other ...
Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles Since the cloning in 1990 of complementary DNA corresponding to messenger RNA transcribed at the blood group ABO locus, polymorphisms and phenotype-genotyp... ML ...
Materials and methods: Blood and saliva samples were tested with standard hemagglutination techniques. Salivary ABH substances were determined by hemagglutination inhibition. PCR techniques were used to amplify the coding region of the H genes. Results: Five different h alleles, designated as h1, h2,...
A powerful illustration of the insights that can be gained from the study of individuals who are homozygous carriers of null alleles in genes of biomedical interest. Article ADS PubMed PubMed Central CAS Google Scholar Saleheen, D. et al. Human knockouts and phenotypic analysis in a cohort ...
(LD). Non-random associations between alleles at different loci. Mendelian randomization A method that uses single-nucleotide polymorphisms associated with an exposure as instruments to probe the causal nature of the relationship between this exposure and an outcome of interest. Antagonistic pleiotropy Th...
Individuals with two mutated FUT2 alleles, and therefore devoid of H type 1 epitopes on their gut epithelial cells, are called nonsecretors and are resistant to infection by NV. This genetically controlled mechanism of resistance to NV also might be important in the protection of infants by ...
Wild-type allele: the allele that encodes for the most common phenotype in a population Mutant allele: any allele that does not code for the most common phenotype in a population Multiple alleles: the occurrence of more than two different alleles in a population (e.g., the ABO blood group...
Collections of biological (often medically relevant) specimens such as blood, saliva or tissue, associated with data annotations that describe the subjects from whom the specimens were obtained, such as age, gender, environmental exposures, phenotypic features, molecular test results or clinical diagnosis...
After harmonizing the alleles and effects between single nucleotide polymorphisms (SNP) associations with blood cell traits and GWAS datasets of outcomes, we obtained 46–246 genome-wide SNPs for the 36 HBC traits (Fig.1; Supplementary Tables1,2). On average, the SNPs explained 10.8% (in the...
Here we describe a unique T cell subset defined by CD4lo and CD40 expression (TCD40) that is significantly expanded in peripheral blood of T1D but not control or T2D subjects. The HLA-DR3 and DR4 alleles are considered high risk factors for T1D and TCD40 expansion occurs in T1D ...