BIOL 101 Lecture Notes - Lecture 11: Sickle-Cell Disease, Fundamental Theorem Of Arithmetic, Aneuploidy

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13 Sep 2016
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Variant form of gene (an allele) that is dysfunctional. Gene is located on the x chromosome. Men are more likely than women to suffer from these conditions. Men only have 1 x chromosome (xy) Hemophilia dysfunctional blood0clotting allele on x chromosome. Females have xx, so more protected by 2nd functional allele on other x chromosome. Recessive genetic conditions: will no exist in the presence of even a single functional allele. Xx x xy: no girls will have hemophilia, 50% will be carriers, 50% of boys will have hemophilia. Genetic defect on chromosomes that are not on sex chromosomes. Sickle-cell disease: mutated sickle-cell allele for hemoglobin (o2-carrying rbcs) H = mutated protein h = normal function. Inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Has a broad impact on a person"s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Sickle-cell anemia is a recessive autosomal disorder.

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