handout 2.24.11 - 1 2/24/11 1. Mutation rate or frequency...

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Unformatted text preview: 1 2/24/11 1. Mutation rate or frequency – Mutations per gene per unit time (e.g., generation) or cell division 2. Monogenic disorder – Human hereditary disease due to a defect in a single gene, showing simple Mendelian inheritance Multifactorial disorder – Human hereditary disease that is inherited like a quantitative trait (i.e., one that is polygenic and with a strong environmental component) 3. Phenylketonuria (PKU) – Human hereditary disease due to a defect in the enzyme, phenylalanine (F) hydroxylase. This defect results in the over-accumulation of F, phenylpyruvic acid (PPA), and its derivatives 4. Albinism – Lack of skin pigmentation, here due to a defect in tyrosinase. This defect results in an inability to produce melanin 5. Amniocentesis – Syringe used to collect fetal cells in the amnion fluid during weeks 15 to 16; the collected fetal cells are then tested for biochemical, chromosomal, and genetic abnormalities 6. Chorionic villi biopsy – Catheter inserted through vagina to collect chorionic tissue from fetus during weeks 7 to 9; the collected fetal cells are then subjected to the same tests as above 7. Suppressor mutation – Second mutation that at least partially restores the gene function lost by a first mutation Reverse mutation – Second mutation that represents the exact opposite of a first mutation; as such, full function is restored ----------------------------------------------------------------------------------------------------------------------------------------- MUTATION RATES AND FREQUENCIES MUTATION Mutation rate or frequency E. coli , lac- to lac + (lactose fermentation) 2 x 10-7 E. coli , ton S to ton R (T1 phage resistance) 2 x 10-8 Humans, Marfan syndrome (connective tissue defect)...
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This note was uploaded on 06/08/2011 for the course PCB 3063 taught by Professor Marta during the Spring '08 term at University of Florida.

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handout 2.24.11 - 1 2/24/11 1. Mutation rate or frequency...

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