Exam 3 Review Notes
Chapter 11
DNA Basics
- Function: Stores genetic material.
- Encoding Information: Information encoded in the sequence of nucleotides.
- Packaging: DNA is packaged into chromosomes stored in the nucleus.
Levels of Nucleotide Organization:
- Nucleotide
- Single strand
- Double Helix
- Chromosome
- Genome
DNA Nucleotides: Composed of a phosphate group, deoxyribose sugar, and a nitrogenous base.
Nitrogenous Bases: Adenine (A), Guanine (G), Cytosine (C), and Thymine (T).
RNA Base: RNA contains Uracil (U) instead of Thymine (T).
Strands Orientation: Strands run anti-parallel in the double-stranded helix.
Complementary Base Pairing Example:
- Given 30% C, the % of A = 20% (A pairs with T, and C pairs with G).
- For strand 5’-AGT CGC TTC GAT ATT-3’, complementary strand = 3’-TCA GCG AAG CTA TAA-5’ (leading strand, since it runs 5’-3’ continuously).
Replication:
- Semi-Conservative: Each new helix has one parental strand and one daughter strand.
- Lagging strand produced as Okazaki fragments.
Chapter 12
Flow of Genetic Material:
- DNA → RNA → Polypeptide.
Transcription: Copying DNA nucleotides to RNA nucleotides.
Translation: Sequence of mRNA converted into amino acids.
mRNA Sequence from DNA:
- Coding strand (5’-ACG TAG GCA CCT ATC-3’): Corresponding mRNA = 5’-ACG UAG GCA CCU AUC-3’.
- Non-coding template strand (3’-CGA ATG AGC GTA CCT-5’): Corresponding mRNA = 5’-GCU UAC UCG CAU GGA-3’.
Transcription Stages:
- Initiation: RNA polymerase binds to promoter.
- Elongation: RNA polymerase synthesizes complementary RNA strand.
- Termination: Transcription ends, polymerase dissociates.
Codon: Sequence of 3 nucleotides coding for a specific amino acid.
tRNA Function: Brings amino acids to the ribosome.
Splicing: Introns removed, exons joined by the spliceosome.
Chapter 15
Protein Function: Determined by structure/shape.
Structure/Shape Determination: Defined by amino acid sequence.
Gene Mutations: Alter DNA sequence of a gene.
Types of Mutations:
- Point Mutation: Substitution of a single base pair.
- Silent Mutation: Codon codes for the same amino acid (does not change protein structure/function).
- Missense Mutation: Codon codes for a different amino acid (can change protein structure/function).
- Nonsense Mutation: Encodes a STOP codon, resulting in shorter proteins.
Cancer Development:
- Stages: Initiation (mutation), followed by promotion (proliferation of mutated cells).
- p53 Gene: Tumor suppressor gene involved in regulating cell division.
- Thymine Dimer: Caused by UV exposure, can impair p53 gene function, leading to skin cancer.
Proto-oncogenes vs Tumor Suppressor Genes:
- Proto-oncogenes: Normal genes that promote cell division when mutated become oncogenes.
- Tumor suppressor genes: Prevent cell division; loss of function leads to cancer.
- Apoptosis: Programmed cell death.
Chapter 16
Chromosome Sets:
- Diploid: 2 sets of chromosomes.
- Haploid: 1 set of chromosomes.
- Polyploid: 3 or more sets of chromosomes.
Human Chromosome Sets:
- One set = 23 chromosomes.
- Autosomal Chromosomes: 22 pairs (not sex-related).
- Sex Chromosomes: 1 pair (determines gender; XX or XY).
Cell Cycle Stages:
- G1 phase
- S phase (DNA replication occurs here)
- G2 phase
- M phase (mitosis or meiosis)
Mitosis: Diploid parent cell divides into 2 genetically identical diploid daughter cells.
Meiosis: Process divides a diploid cell to produce 4 haploid gametes (2 rounds: Meiosis I and II).
- Bivalents form during Prophase I (crossing over).
Chapter 17
Gene Variations: Different forms of genes are called alleles.
Trait Forms: Dominant and recessive traits.
Genotype vs Phenotype:
- Genotype: Genetic makeup.
- Phenotype: Observable characteristics.
Pedigree Analysis:
- Autosomal recessive disorder: Not all generations affected, affected offspring from unaffected parents.
- X-linked Recessive Traits: More frequent in males.
Dominance Relationships:
- Incomplete Dominance: Heterozygote exhibits intermediate phenotype.
- Codominance: Both dominant alleles expressed.
Environmental Influence: Affects phenotypic expression.
Polygenic Traits: Traits like height influenced by multiple genes.
Mendelian Genetics Example:
- In cows: Black fur (B) dominant, brown fur (b) recessive. Heterozygous cross results in 25% (¼) chance of brown calf.
- Red-green colorblindness: X-linked recessive disorder. Genotypes: Adam (XAXa), Eve (XAXA). Boy's probability of being colorblind = 50% (½).