BackGenetics Exam 2 Study Guide: Linkage, Gene Mapping, DNA Replication, and the Genetic Code
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Genetic Linkage and Gene Mapping
What Is Linkage?
Genetic linkage refers to the phenomenon where genes located close together on the same chromosome tend to be inherited together. This violates Mendel's Law of Independent Assortment, which states that genes on different chromosomes assort independently during gamete formation.
Linked genes: Genes situated near each other on the same chromosome.
Linked genes do not assort independently.
Linkage reduces genetic variation by producing fewer recombinant gametes.
Recombination and Crossing Over
Recombination is the process by which new combinations of alleles are formed through crossing over during meiosis. This process increases genetic diversity.
Parental gametes: Gametes with allele combinations identical to those of the parent.
Recombinant gametes: Gametes with new allele combinations resulting from crossing over.
Chiasma (plural: chiasmata): The physical X-shaped structure where crossing over occurs between homologous chromosomes during Prophase I of meiosis.
Map Units and Recombination Frequency
Geneticists use recombination frequency to estimate the distance between genes on a chromosome. This distance is measured in map units (m.u.) or centiMorgans (cM).
1 map unit (m.u.) = 1 centiMorgan (cM) = 1% recombination frequency.
For example, a recombination frequency of 12% corresponds to a map distance of 12 cM.
Genes are considered linked if they are less than 50 cM apart.
At 50 cM or greater, genes assort independently (behave as if unlinked).
Gene Mapping
Gene mapping involves determining the order and relative distances of genes on a chromosome using recombination frequencies.
Given distances between gene pairs (e.g., A–B = 10 m.u., B–C = 15 m.u.), you can deduce gene order and total distance.
Draw a number line and place genes according to the given distances.
The farther apart two genes are, the higher the probability of crossing over between them.
DNA Replication: Mechanisms and Enzymes
Semi-Conservative Replication
DNA replication is described as semi-conservative, meaning each new DNA molecule consists of one parental (old) strand and one newly synthesized strand.
DNA unwinds, and each parental strand serves as a template.
New complementary strands are synthesized using base-pairing rules.
Each daughter DNA molecule contains one old and one new strand.
Meselson-Stahl Experiment
The Meselson-Stahl experiment provided evidence for the semi-conservative model of DNA replication by using isotopes of nitrogen (¹⁵N and ¹⁴N) to distinguish old and new DNA strands.
Bacteria were grown in heavy nitrogen (¹⁵N), then transferred to light nitrogen (¹⁴N).
After replication, DNA was analyzed by density gradient centrifugation, revealing hybrid and light DNA bands consistent with semi-conservative replication.
Replication Enzymes and Their Functions
Enzyme/Component | Function |
|---|---|
Helicase | Unwinds and separates the DNA double helix |
Primase | Synthesizes short RNA primers to initiate DNA synthesis |
DNA Polymerase | Adds new nucleotides to the growing DNA strand; requires a free 3' OH group |
Ligase | Joins Okazaki fragments on the lagging strand |
3' → 5' exonuclease activity | Proofreading function of DNA polymerase; removes incorrectly paired bases |
Leading strand: Synthesized continuously in the 5' → 3' direction.
Lagging strand: Synthesized discontinuously as Okazaki fragments, later joined by ligase.
Mutations and Their Effects
Mutation Type | Effect |
|---|---|
Silent mutation | Codon change does not alter the amino acid; no effect on protein |
Nonsense mutation | Codon change creates a premature STOP codon; results in a truncated protein |
Missense mutation | Codon change results in a different amino acid |
Frameshift mutation | Insertion or deletion shifts the reading frame, altering downstream amino acids |
Nonsense mutations cause early termination of translation, producing shortened proteins.
The Genetic Code and Translation
Degeneracy of the Genetic Code
The genetic code is degenerate, meaning multiple codons can specify the same amino acid.
Example: Both GAA and GAG code for glutamic acid.
Start and Stop Codons
Codon | Function |
|---|---|
UAA | STOP |
UAG | STOP |
UGA | STOP |
AUG | START (codes for Methionine) |
AUG is the start codon and codes for methionine; it is not a stop codon.
tRNA anticodons are complementary to mRNA codons.
RNA uses uracil (U) instead of thymine (T).
Example: mRNA codon GCA pairs with tRNA anticodon CGU.
Central Dogma: Transcription and Translation
The central dogma of molecular biology describes the flow of genetic information from DNA to RNA to protein.
Transcription: DNA is transcribed into mRNA (in the nucleus for eukaryotes).
Translation: mRNA is translated into a polypeptide/protein at the ribosome.
DNA and RNA strands are antiparallel.
If the DNA template strand is 3'→5', the mRNA is synthesized 5'→3'.
Example of Transcription and Translation
Strand | Sequence |
|---|---|
DNA Template | 3'-GCCTACGAT-5' |
Coding Strand | 5'-CGGATGCTA-3' |
mRNA | 5'-CGGAUCGUA-3' |
Use the codon table to determine the amino acid sequence from the mRNA.
Converting Genotype/Phenotype Ratios
Be able to convert classic Mendelian ratios (e.g., 9:3:3:1, 1:1:1:1) to percentages for genetic problems.
9:3:3:1 ratio: 9/16, 3/16, 3/16, 1/16 (multiply by 100 for percentages).
1:1:1:1 ratio: Each class is 25%.
Formulas and Equations
Recombination frequency formula:
Map distance (in cM):