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Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS. Isoelectric focusing or high-performance liquid chromatography are used to identify structural abnormalities in hemoglobin.
Genetic variation is the difference in DNA among individuals [1] or the differences between populations among the same species. [2] The multiple sources of genetic variation include mutation and genetic recombination. [3] Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as ...
A slightly deleterious mutation can be defined as a mutation that negative selection acts on only very weakly so that its fate is determined by both selection and random genetic drift. [3] If slightly deleterious mutations are segregating in the population, then it becomes difficult to detect positive selection and the degree of positive ...
A mutation will increase genetic diversity in the short term, as a new gene is introduced to the gene pool. However, the persistence of this gene is dependent of drift and selection (see above). Most new mutations either have a neutral or negative effect on fitness, while some have a positive effect. [11]
Serial founder effects and past small population size (increasing the likelihood of genetic drift) may have had an important influence in neutral differences between populations. [ citation needed ] The second main cause of genetic variation is due to the high degree of neutrality of most mutations .
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion. [1] Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology.Studies in this branch of biology examine such phenomena as adaptation, speciation, and population structure.