BIOL 1010U Lecture Notes - Lecture 15: Genetic Variation, Chronic Obstructive Pulmonary Disease, Lactose Intolerance

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All alleles present in all individuals in a species: genotype. The genetic makeup of a cell or organism: phenotype. An individual"s observable characteristics (i. e. , height, eye color, lactose intolerance, weight, color blindness, etc. : polymorphism. A common genetic difference: common enough that it would almost certainly be present in a group of 50 randomly chosen individuals. Example: three alleles of the gene encoding b-globin, one of the subunits that carries oxygen to the blood. Homozygous for piz allele produce 1at with reduced activity. Individuals who never smoke can also develop emphysema: mutation in the gene encoding 1at, homozygous individuals produce 1at with reduced activity and therefore have reduced elastase inhibition. Individuals with the mutant gene and that smoke are far more susceptible to developing emphysema. 80% of all emphysema cases are associated with smoking: piz mutation. Piz/piz non smokers reduced a1at activity emphysema results (life expectancy 65 yrs) Piz/piz smokers increases severity and progression of disease (life expectancy 40 yrs)

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