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The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption.
One of the better-characterized genes responsible for hereditary haemochromatosis is HFE [26] on chromosome 6, which codes for a transmembrane protein involved in the induction of hepcidin expression upon high iron load. The HFE gene has three often observed genetic variants: [27] [28] rs1799945, c.187C>G, p.His63Asp (H63D); rs1800562, c.845G>A, p.
The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [5] ... often in compound heterozygosity with HFE C282Y. Other mutations are either synonymous ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Locus heterogeneity should not be confused with allelic heterogeneity, in which a single phenotype can be produced by multiple mutations, all of which are at the same locus on a chromosome. [1] Likewise, it should not be confused with phenotypic heterogeneity , in which different phenotypes arise among organisms with identical genotypes and ...
The best-known example of disassortative mating in humans is preference for genes in the major histocompatibility complex (MHC) region on chromosome 6. Individuals feel more attracted to odors of individuals who are genetically different in this region. [7] This promotes MHC heterozygosity in the children, making them less vulnerable to pathogens.
A wedding ring is more than just jewelry—it's a daily reflection of your love, commitment, and story. Whether you gravitate toward timeless elegance, bold statements, or effortless simplicity ...
Allelic heterogeneity is the phenomenon in which different mutations at the same locus lead to the same or very similar phenotypes.These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens, genetic drift, or genetic migration.