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Hemoglobin E ( HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent. [1] [2]
A gene family is a set of homologous genes within one organism. A gene cluster is a group of two or more genes found within an organism's DNA that encode similar polypeptides, or proteins, which collectively share a generalized function and are often located within a few thousand base pairs of each other. The size of gene clusters can vary ...
Sickle-cell and malaria. As a recessive gene, Sickle-cell disease is only present if homozygous, with no dominant gene to beat them out. Sickle-cell disease, originating in people living in tropical areas where malaria is prevalent, is a hereditary blood disorder characterized by rigid, sickle-shaped red blood cells.. The unusual shape and ...
Evolutionary pressure, selective pressure or selection pressure is exerted by factors that reduce or increase reproductive success in a portion of a population, driving natural selection. [1] It is a quantitative description of the amount of change occurring in processes investigated by evolutionary biology, but the formal concept is often ...
Hematology. Within the medical specialty of hematology, Hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, [1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago, [2] is a hemoglobin variant. It originates from a point mutation in the human β-globin locus and is one of the most common hemoglobin variants worldwide. [1]
The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism). In genetics and bioinformatics, a single-nucleotide polymorphism ( SNP / snɪp /; plural SNPs / snɪps /) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the ...
At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome. More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome.
Hereditary haemochromatosis type 1 ( HFE-related Hemochromatosis) [3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. [4] Humans, like most animals, have no mechanism to regulate excess iron, simply losing a limited amount through various ...