HLTB20H3 Lecture Notes - Lecture 3: Zygosity, Genetic Disorder, Karl Landsteiner

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Tay-sachs is a genetic disorder , recessive disease. If you are homozygous for tt , you wont survive past your birthday (most likely you will die) You are missing an enzyme called hexa , fatty substances that collect in your central nervous system. Children who get this recessive condition, suffer from the accumulation of these fatty lipids in their brains and essentially die total population : 10000 , 3 children in born with tay-sachs. By using the hardy-weinburg equation you can say tt = q^2. One of the highest frequency of this disease is found in toronto. Estimate the frequency of a gene in a population. Q^2= tt = 3/10000 = square root 3/10000 = . 093. 10000 (335+3) = people who were completely normal , not carrier. 5 babies were born in a total population of 575. Q^2= 5/575 = square root of 5/ 575 = 0. 0093. Q not q^2 because males only have 1 x chromosome.

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