BIOLOGY UNIT 3: GENETICS

Vocabulary:
The genome – the complete DNA ‘blueprint’ for an organism. All your genetic information taken
together.
Genes – A length of DNA that codes for a protein, involved in gene expression. Influences one or more
characteristics. Many genes are involved in the expression of a trait (eg. Skin Color). Heritable factor
Locus – Refers to the specific position of a gene on a chromosome. Identified through gene mapping or
sequencing
Mutations – changes in the sequence of DNA
Alleles – Alternate form of a gene. Differ by just a few bases. We all have the exact same number of
genes. Alleles we have make us different. The various, specific forms of a gene that usually vary from
each other by one or a few bases
Chromosome: Long DNA molecules, which contain many genes
Inheritance of sickle cell anemia – an example of how alleles influence characteristics
Genome size and number of genes for different organisms
Genetic databases and the Human Genome Project – using technology to study genes and alleles

3.1 Genes
Chromosomes, genes and alleles
- Living organisms are what they are because of the expression of genetic information in their
cells.
- There are many versions of a gene, but you can only carry two of the versions. One from mom,
and one from dad.
- DNA stores its information in the sequence of its four nitrogenous bases, abbreviated as A,
T, C, and G. These bases form a code, which is read in groups of 3
- Organisms store their genes on long stretches of DNA called chromosomes. A single
chromosome may have hundreds or thousands of genes, each in a specific location or locus
- You are homozygous for a gene if you have two copies of the same allele; you are heterozygous
if you have two different alleles.

Mutations
- Random changes in base sequence
- Can be as small as one base substitution or as large as a duplication or deletion of whole
chromosomal section
- Usually neutral or not harmful
- Small mutations contribute if evolution by creating new variations of a trait eg. can result
in resistance to antibiotics in bacteria
- Large mutations are usually harmful
 - When DNA is replicated sometimes errors are made. The daughter cells then contain DNA that
differs from the DNA in the parental cell.
- These changes in DNA sequence are called mutations. All new alleles are created by mutation.
- However, once a new allele exists it is copied and passed on in the same manner as
- CAUSE: Exposure to radiation, and some chemicals, known as mutagens.
- A mutation that changes one nitrogenous base in a sequence is called a base-substitution
mutation

Are all mutations heritable (transmissible from parent to baby)?

Not heritable
- In somatic (body) cells
Heritable
- In gametes (eggs/sperms)

Genome:
- Genome of HIV has 10000 base pairs of DNA and only 9 known genes
- For comparison, the human genome contains 3 billions base pairs and 20,000 genes

SNP’s
- Single nucleotide polymorphism
- Describe changes that exist between alleles of a gene
- One base is exchanged for another
- Multiple SNPs may exist in variations of gene

Homologous Chromosomes
- Homologous chromosome are NOT exact copies of each other
- Homologos carry the same genes at the same loci, but many carry different alleles of the gene
- In diploid organisms, the material and paternal chromosomes are homologs
-
Sister chromatids
- Sister chromatids are EXACT replicas of one another
- They carry the same alleles for the same genes at the same loci
- These are present in the S phase of the cell cycle when two homologs have doubled

Malaria Vs Sickle Cell anemia

HbAHbA: Normal (asymptomatic) (A is good)
HbAHbS: Normal (asymptomatic) (A is stronger than S so it becomes normal)
HbSHbS: Sickle Cells (symptomatic: pain, fever, nausea, fatal) (S is bad)
- Infection with malaria parasite causes HbAHbS normal RBC to become sickle
- This triggers the immune system to eliminate the affected RBCs
 - The parasite gets eliminated along with it
- Therefore this allele offers a type of protection against malaria

3.2 Chromosomes
Prokaryotic Cells
- ONE copy of ONE chromosome
- Contains genes necessary for survival. Contains the entire genome
- Circular
- No histones
- Contain Plasmids
- Circular pieces of double-stranded DNA
- Prokaryotic DNA is called Naked DNA
- Genes are beneficial but non-essential for life
- Very small
- The single, circular prokaryotic chromosome is referred to as ‘naked’ because it is not associated
with any proteins

Plasmids
- Prokaryotes often contain much smaller loops of DNA known as plasmids
- May confer antibiotic resistance
- Can exist in large amounts
- Copy number is independent of binary fission
- Copy number influences level of gene expression
- Can be transferred within AND between species
- Extremely useful as a genetic tool – vector for gene transfer
- Plasmids are much smaller circular DNA molecules that are easily exchanged between
prokaryotes and may contain several genes
-
Karyograms
- Micrograph of chromosomes
- Displays chromosome pairs in order by decreasing size
- Allows for quick assessment of abnormalities
- A karyogram shows the chromosomes of an organism in homologous pairs of decreasing length.
- USES: To deduce the sex of an individual, To diagnose for chromosomal abnormalities such as
Down syndrome in humans.

Haploid and Diploid

Haploid:contains ONE copy of each chromosome
Diploid: contains TWO copies of each chromosome
 - Having a pair of each kind of chromosome is called the diploid state; having one copy of each
chromosome is the haploid state.
- Most of the cells in your body are diploid , meaning the nucleus contains two copies of each
chromosome – 23 homologous pairs, for a total of 46 chromosomes.
- It is therefore the father's gamete that determines the sex of the child
- Diploid nuclei have pairs of homologous chromosomes
- Haploid nuclei have one chromosome of each pair of homologous chromosomes
- Each chromosome in a homologous pair is referred to as a homologue
- A structure consisting of two homologous is called a tetrad
- Sex is determined by sex chromosomes; autosomes are chromosomes that do not determine sex

Identifying abnormalities

3.3 Meiosis
Mitosis Review:
- Mitosis results in 2 identical daughter cells
- These cells are identical to the parent cell
- All are diploid
- Mitosis occurs in the somatic (body) cells
- Cyclical (it can keep dividing and divding)
- Fnc: growth, repair and genetic continuity
- Nuclear membrane disappears, chromosomes line up, nuclear membrane reappears
- GOAL: MAKE IDENTICAL CELLS

Meiosis Overview
- Occurs in germ cells (egg + sperm)
- A diploid germ cell divides TWICE to produce 4 haploid daughter cells
- The daughter cells are called GAMETES i.e. egg and sperm
- Process in NON-CYCLICAL (Germ cell makes sperm and they either die or make an egg)
- Daughter cells are non-identical
- GOAL: Produce a unique cell each time so each of the mothers kids look different
Steps:
Prophase I: nuclear membrane disappears
Metaphase I: chromosomes line up
Anaphase I: homologs separate
Telophase I: 2 daughter nuclei
NO INTERPHASE HERE: DNA doesn’t replicate
Prophase II: nuclear membrane disappears
Metaphase II: chromosomes lineup
Anaphase II: sister chromatids separate
Telophase II: 4 haploid nuclei

ON TEST: Anaphase 1, homologs separate, Anaphase 2, sister chromatids separate

HOW TO COUNT CHROMOSOMES

- 1 chromo → 1 chromosome (n)
- 2 sister chromatids attached at the centromere → 1 chromosome (n)
2 homologous chromosomes → 2 chromos (2n)
- 2 pairs of homologous chromosomes → 2 chromosomes (2n) - BIVALENTS

Importance of Haploid Gametes

- Each gamete has one complete set of genetic information (n)
- When the gametes unite (egg and sperm) this produces a diploid organism (zygote)

If we did not have meiosis of germ cells..?

- Suppose there are 2 diploid human beings with diploid gametes
- Producing a baby would result in 2n + 2n = 4n
- If a 4n person reproduced with a another 4n person, this would make an 8n person
- People would not survive as there would be serious genetic complications!!!!

Oogenesis & Spermatogenesis

MALES:
- Diploid germ cell
- Meiosis I: 2 cells
- Meiosis II: 4 haploid sperm
FEMALES:
- Diploid germ cell
- Meiosis I: 2 cells
- Meiosis II: 1 haploid egg, 3 polar bodies (die)
- Allows egg to maximize resources
Sources of Variation
1) Recombination (ON TEST)
- Occurs during Prophase 1
- Paternal and maternal alleles are crossed-over to form new combinations of alleles
- This increases genetic variation among sexually species
- Recombination frequency is highest at the ends, lowest near the centromere
- Putting new alleles together
- When the chromosomes click together its called synapsis

Synapsis and Chiasma(TA)

SYNAPSIS:
- When homologous chromosomes are positioned side by side and pair up all along their length
CHIASMATA:
- The points where chromatids disconnect and rejoin on another chromatid

DUH!
- During A1, the homologs separate
- During A2, the sister chromatids separate
- There is more chance of producing variation by X-over with a homolog than a sister chromatid
which is why this process takes place in M1
- Chiasma would occur with homologous chromosomes

2) Random Orientation of Chromosomes

- Occurs during Metaphase 1
- Each of the 4 haploid cells are different
- The result of meiosis is that every sperm and egg is unique
- This is why there are no two human beings that look exactly alike!

…. Increasing Variation
- Imagine the amount of different combinations if you consider 23 chromosomes assorting
independently and the possibility of crossing over among 3 billion base pairs!!!
- A cell with 2 chromosome pairs has 22 possible ways of "assorting"
- A cell with 23 chromosome pairs has 223 possible ways of assorting (8388608)
- The amount of variation (possibilities) for assortment can be calculated by 2n where n=number
of chromosome pairs
- WHY IT'S IMPORTANT: Consider a field of corn where every single corn plant was genetically
identical. If a pesticide were to invade the field, every single corn plant would die
MISTAKES IN MEIOSIS

Review:
- Phase of mitosis where chromosomes separate
- Products of meiosis in females
- Two events that increase variation in meiosis
- Connection b/w a gene, a locus and an allele
- Process that produces identical daughter cells
- Homologs
- Phase in which sister chromatids separate
- Function of genes

ERRORS: Two Types

1) Abnormal Chromosome Number
- Aneuploidy
- When segregation of the chromosomes does not occur properly
- Results in cells with too few or too many chromosomes
- Caused by nondisjunction

Nondisjunction
- Failure of homologous chromosomes to move apart during meiosis I or failure of sister
chromatids to move apart during meiosis II
- May result in a genetic disorder if the fetus survives, usually fetus will self-abort
- Most common to survive are abnormalities related to chromo 13, 18, 21 or XY

Related Disorders:
Trisomy 13, 18, 21:
- physical and intellectual disabilities
Monosomy or Trisomy of Sex Chromosomes:
- abnormalities related to sexual characteristics
Other Chromosomes:
- Genes which when missing or repeated are fatal

2) Abnormal Chromosome Structure

- deletion, duplication, inversion, translocation
- Occurs during crossing-over of chromatids
 a) Deletion
- Segments being exchanged are non-identical
- A chromatid exchanges a larger piece for a smaller piece and loses information

b) Duplication
- Segment that is lost during deletion results in a duplication on the other chromatid

c) Inversion
- A segment reattaches to a chromatid but in the wrong orientation - the DNA sequence is reversed

d) Translocation
- A segment reattaches to a non-homologous chromatid

*Note that an error in meiosis in the zygote will be present in every cell of the baby…. if the baby
survives

Inheritance Notes

Genotype: letters (Bb) (TT) (homogynous recessive)

Phenotype: How the person looks (he has brown eyes, she has blue eyes)

Mendel bred tall plants ith tall plants till he was sure the outcome was TT and not Tt
Rrougly 3 quarters and roughly 1 (3;1)

Monohyrid
Pheotype
3:1
Genotype
1:2:2