unit c genetics diploma review - biology 30 diploma...
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Genetics ReviewPart I: Cell Division
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Cell Cycle• The “life cycle” of a cell
o The M phase includes
mitosis and cytokinesis.
o Interphase accounts
for 90% of the cell
cycle.
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DNA organized as chromosomes
• Before mitosis each chromosome is replicated in S phase.
o two sister chromatids
o chromatids connect at
the centromere.
• Mitosis will separate the chromatids into new cells.
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Interphase
• Cell carries out its regular functions
• Grows, replicates organelles, replicates DNA
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Prophase - early
• Chromatin becomes chromosomes
o sister chromatids
• mitotic spindle begins to form
o centrioles move to poles
• (animal only).
o Or Anchor to cell wall
• (plant only)
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 12.5b
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Prophase – late (or prometaphase)
• Nucleus dissolves
• centrioles move to poles
• spindle attaches centromere (kinetochore) to centrioles.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 12.5c
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Metaphase
• sister chromatids are all arranged at the metaphase plate.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 12.5d
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Anaphase
• centromeres divide, separating the sister chromatids.
• these are pulled toward the pole.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 12.5e
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Telophase• two nuclei begin to form
• DNA becomes less tightly coiled –back to chromatin.
• followed by Cytokinesis.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 12.5f
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Cytokinesis in animals
• Division of the cytoplasm
• A cleavage furrow forms that pinches the cell in two
Cytokinesis in plants
• A cell plate made up of cell-wall components gradually forms in the middle of the cell.
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Memory Tool• I = Rest and Replicate
• P = Appear
• M = Line up
• A = Pull apart
• T = Half and hide
**You need to be able to explain what happens with
the DNA, nuclear envelope, centrioles and spindle
fibers during each stage
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Terminology
• Haploid (n) – contain one set of chromosomes (not
paired)o The 23 different kinds of chromosomes in humans
• Diploid (2n) – DNA is in homologous chromosome
form. Two sets of chromosomeso i.e., the 46 chromosomes of humans (23 pairs)
• Polyploid (more than 2n) – more than 2 sets of
chromosomes.
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Cancer• Uncontrolled cell growth forms tumors
• Very little time in interphase
• Unspecialized cells – non-functional
• Metastasize as no adhesion to other cells
• A Mutation can affects the regulation of cell division
and thus uncontrolled mitosis, and cancer result
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Cloning• Mitosis
• Budding (yeast)
• Vegetative propagation (plant runners)
• Identical twins (monozygotic)
• Adult stem cells e.g.: bone marrow produces blood
cells
• Embryonic stem cells from blastula inner mass are
totipotent (can produce entire organism)
• Blastula nucleus transplanted
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Why form gametes (non-somatic cells)
• Diploid somatic (2n) �
Haploid Gamete (n)
• Union produces zygote
• Genetic recombination
of genes from both
parents for natural
selection
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MeiosisKey Terms:� Homologous chromosomes� Tetrads� Synapsis� Crossing over� Segregation
General IPMAT & RALPHStill applies to the phases
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Meiosis• Prophase 1 = crossing over
• Metaphase 1 = chromosomes line up side by side
• Only 1 interphase, no further growth or DNA
replication between Meiosis I and Meiosis II
• Meiosis 1 cells go from (2n) to (n) (still replicated in
sister chromatid form)
• Meiosis II cells go from replicated (n) to a single
copy (n)
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Gametogenesis:
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Nondisjunction
• Trisomy – 1 extra chromosome• Monosomy – 1 less chromosome
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21
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Comparison
Mitosis Meiosis
• Somatic cells
• 2 identical cells
produced
• 2n�2n or n�n
• No pairing or crossing
over of homologs
• For growth and repair
• Gonads
• 4 different cells
produced
• 2n�n
• Pairing of homologous
chromosomes
• Crossing over
• Produces gametes
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Alternation of Generations• Some organisms alternate between sexual and asexual
reproduction
• You will be asked to either identify the areas of Mitosis and/or Meiosis or what structures are haploid or diploid
• Important Processes:o Fertilization = n + n → 2n
oMeiosis = 2n → n
oMitosis (maintains chromosome #)
• 2n → 2n or n → n
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Genetics ReviewPart II: DNA and Molecular Genetics
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DNA Structure
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History• Only need to know Watson & Crick – deduced
structure of DNA (1953)
• Used x-ray diffractin pattern of Rosalind Franklin
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DNA Composition
• Nucleotide = sugar, phosphate & nitrogen base
• 4 Nitrogen bases: Adenine, thymine, guanine, cytosine
• Antiparallel strands
• Sequence of bases on one strand determines sequence of other (A with T, C with G)
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Base Pairing Rule
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Example:• Species X has 20% Adenine in their DNA sample.
How much Cytosine do they have?
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Central Dogma of Molecular Genetics….basics
• Replication
o DNA is copied (DNA→ DNA)
• Transcription
o A message is made from the DNA template (the gene is transcribed) (DNA→ mRNA)
• Translation
o mRNA is “read” and an amino acid sequence (protein) is
made (mRNA→ Protein)
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DNA Replication• Each chromosome = long DNA strand, must be
replicated precisely
• During what phase of the cell cycle?
• Location?
• Enzymes involved:
o Helicase – opens DNA Strands
o DNA Polymerase – adds new nucleotides to growing strand
• Semi-conservative replication
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Biotechnologies: PCR• Polymerase Chain Reaction
• Making millions of copies of a DNA sample using
laboratory equipment, heat resistant polymerase
enzyme and nucleotide supply• Cause replication to happen at a very rapid rate
• Used for DNA analysis
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Transcription:• Occurs in nucleus
• One side of DNA
• DNA to mRNA
• RNA – Uracil, ribose,
single stranded
• Enzyme: RNA
Polymerase
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• Amino acid chain = polypeptide chain = Protein
• Protein functions: hormones, enzymes, antibodies, structures
• Function of a protein is COMPLETELY dependent on its shape
• Shape is determined by sequence of amino acids which is determined by sequence of mRNA codons• Sequence of mRNA codons determined by base sequence of DNA in the
gene
• Defective (mutant) or missing gene = altered protein function
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Translation (cytoplasm) one gene = one protein
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RNA• Messenger – mRNA
• Transfer - tRNA
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Process of Translation:• A ribosome moves along the mRNA, tRNAs
sequentially bring in the appropriate amino acids
which are then bonded together in a polypeptide
chain (protein)
• The tRNAs are then free to pick up another amino
acid in cytoplasm
• When ribosome reads a stop codon on the mRNA,
the amino acid chain is released as a protein and
the ribosome releases the mRNA
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For the Details…
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Mitochondrial DNA
• mtDNA
• Small number of bases (70 000 versus 6 billion in
genome)
• Mitochondria is from mother exclusively
• Trace lineage maternally
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Mutations• Gene mutation – DNA sequence altered
• Chromosome – missing portions or entire
chromosome leads to huge alterations
• Mutagens – spontaneous error, radiation chemicals
• Types of mutations: substituition, deletion, insertion…
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Types of mutations
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Genetic Engineering• DNA can be artificially recombined in the lab to
have specific gene combinations and
characteristics
• Requires:
o Restriction Enzymes – cut DNA (scissors)
oDNA Ligase – glues backbone back together
• Can produce transgenic organisms that contain
foreign DNA. Why?....o Bacteria can make human proteins (insulin)
o Modify plants to withstand disease, harsh conditions
o Animals with increased growth or to serve as organ donors.
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DNA
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Gel Electrophoresis• Separation of DNA fragments based on size
• Restriction Enzymes cut DNA
• Apply to gel, electric current
• Smaller fragments move farther/faster
• Paternity testing, gene presence, court evidence
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Genetics ReviewPart III: Classical Genetics (Mendel & Beyond)
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Genes – Units of Heredity
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Heredity
• Genes – determine a protein and hence a trait
• Polygenic – 2 or more genes determine some traits
e.g.: height, intelligence
• Genome – all the genes of an organism in DNA
• Alleles – forms of a gene
• Law of Dominance
o Dominant
o Recessive
o Homozygous (pure)
o Heterozygous (hybrid, carrier)
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Law of Segregation
Pairs of alleles separate during meiosis
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Phenotype and Genotype
What it looks likeWhat alleles it carries
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Testcross• To determine the genotype of a dominant
phenotype
• Unknown mated with HOMOZYGOUS RECESSIVE
• If all offspring are dominant the parent is pure =
homozygous dominant
• If ANY offspring are recessive the parent is
heterozygous
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Law of Independent Assortment
• Genes on separate chromosomes assort
independently (randomly) during gamete formation
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Dihybrid Cross
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Steps to Solving a dihybrid Question:
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Alternatively…
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Incomplete Dominance Codominance
• Alleles are equally
dominant and create a
blend
• Use superscript symbols
instead of capital and
small letters
• Both alleles are
expressed in the
heterozygote
• Use same superscript
symbols as incomplete
dominance
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Multiple Alleles – blood groups
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Blood Groups• The diploma often asks questions about blood groups
o Multiple alleles for ABO
• 4 phenotypes: A, B, AB, O
o Dominant/recessive for + or –
• 2 phenotypes + or -
o Codominance for MN group
• 3 phenotypes: MM, MN or NN
• Sometimes questions are dihybrid crosses, sometimes
“What offspring are possible from parents”, etc
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Epistasis• One gene affects the expression of another gene
• E.g.: Coat color
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Sex-linked Traits
• If traits are carried on the
X Chromosome (most):
o Only female carriers
o Never passed from father to
son
• If carried on the Y
chromosome (rarely):
o Only affect males
o Passed from father to sonNote: males and females are already considered so don’t multiply by half when answering question
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Linked Genes
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Gene Mapping
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Pedigrees
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Pedigree AnalysisPossible modes of inheritance you need to identify, interpret,
calculate probabilities
• Autosomal – equal male and female
o Dominant – affected child has affected parent
o Recessive – 2 unaffected parents have affected child
• X-linked – more males
o Dominant – no transmission from father to son, affected
males produce only affected daughters
o Recessive – affected female has affected father
• Y-linked – only males, from father to son
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