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BIO340- Chapter 1

Molecular Genetics Structure & processes such as replication, transcription, and translation
Transmission genetics Mendelian genetics and its variations
How many chromosomes in a human cell? 46
How long is DNA in a human cell? 2 meters
How many DNA bases in a human cell? 3 billion
How many genes that code for proteins in a human cell? 21,000 genes
Reverse transcriptase a type of DNA polymerase that uses an RNA template to synthesize DNA
Where is reverse transcriptase commonly found? retroviruses & retrotransposable elements
What are the four levels of biological organization? Molecular, cellular, organismal, population
Small mutations base substitutions (A to G) or length mutations (insertions or deletions)
What's an example of a base substitution? A to G
What's an example of a length mutation? Insertion or deletion
What's PKU? Phenylketonuria- a disease caused by the inability of an individual to break down amino acid phenylalanine into tyrosine
PAH a gene that codes for the enzyme PAH (phenylalanine hydroxylase) that catalyzes the chemical reaction of breaking down phenylalanine into tyrosine
What happens if phenylalanine accumulates? It's converted into phenylpyruvic acid in the liver which crosses the blood-brain barrier and is toxic to nerve cells; it affects the brain early in development and can cause mental retardation
Compound heterozygote When an individual has two different mutant alleles
In terms of PKU, how is it that genotype doesn't necessarily determine phenotype? Environment can affect whether or not someone has PKU because if it's caught early enough, the diet can be controlled and the brain can develop as it should
BH4 Tetrahydrobiopterin- a cofactor of PAH, And the alleles at four genes influence the production & recycling of BH4
BBB Blood-brain barrier- prevents most molecules from entering the brain, and alleles at several genes affect the strength of the BBB
Created by: 817229501