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In this study, which shows correlation but not causation, people with CHIP were 2.3 times more likely to have a heart attack, or 4.4 times as likely if the variant allele frequency (VAF, a measure of clone size) [38] in their blood was greater than 0.10, than matched controls without CHIP. [5]
Allele frequency. Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
HLA-DQ2. HLA -DQ2 (DQ2) is a serotype group within HLA-DQ (DQ) serotyping system. The serotype is determined by the antibody recognition of β 2 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ2 are encoded by the HLA-DQB1 *02 allele group. This group currently contains two common alleles, DQB1 *0201 and DQB1 *0202.
An autosome is any chromosome other than a sex chromosome. In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. [ 1 ][ 2 ] The first variant is termed dominant and the second is called recessive.
HLA-C (Human Leukocyte Antigen-C) belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system ...
Single nucleotide substitutions with an allele frequency of less than 1% are sometimes called single-nucleotide variants (SNVs). [8] " Variant" may also be used as a general term for any single nucleotide change in a DNA sequence, [ 9 ] encompassing both common SNPs and rare mutations , whether germline or somatic .
The incidence of Fyb is higher in both groups with frequencies of 0.53 and 0.64 respectively. [54] In the Chinese ethnic populations—the Han and the She people—the frequencies of Fya and Fyb alleles were 0.94 and 0.06 and 0.98 and 0.02 respectively. [55] The frequency of the Fya allele in most Asian populations is ~95%. In Grande Comore ...
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation, t (9;22) (q34;q11), of genetic material between chromosome 9 and ...