Genetic Expression

Premise #1: Genes are inherited from your parents. Offspring

resemble their parents. Genes code for certain traits that are
passed on from generation to generation.
Premise #2: Heredity is the passage of these genes from
generation to generation. Each gene is a set of coded
instructions for a specific trait.

Gene Chromosome Theory: Chromosomes that

separate during meiosis are the same as the
chromosomes that unite during fertilization. Genes are
carried on those chromosomes.

Mendelian Genetics
Alleles: Different forms of the gene for the same trait. They are
in pairs. One allele came from Mom and one came from Dad.
EX: Height alleles
T = Tall
t = short
Homozygous (same): alleles for a certain trait are the same
EX: TT or tt
Heterozygous (different) or hybrid: alleles for a certain trait
are different
EX: Tt
alleles

also know as hybrid= combination of two different

Genotype: exact genes that you have

Phenotype: the outward appearance of the trait. It is what you
see only.
Law of Dominance: If an organism is heterozygous (hybrid) for a
particular trait, then only the dominant trait will be seen.
T = Tall is dominant over t = short is recessive
** A dominant trait when paired with a recessive trait will be the
only gene that is expressed and show on the outside. *****
EX: Tt = Tall
TT = Tall
tt = short

Connection:
You can have 2 different genotypes and still have the
same phenotype!
Person #1 TT= Tall
Person #2 Tt= Tall

Therefore, you cant always tell from the outward appearance

what exact genes a person has on their chromosomes.

Homologous Chromosomes:
Chromosomes that have alleles for the same trait.
They are in pairs.
Each chromosome in the pair contains a gene for the same trait
(sometimes called sister chromatids)
Moms Homologous Chromosome pair each has a genetic code for the same type of
protein.
She has the genotype Tt = one homologous chromosome has a T gene and
the other matched homologous chromosome has a t gene.
Both genes code for the height protein.
Dads homologous chromosome pair is Tt.
During Meiosis Dad will produce two different sperms.
T t

During Meiosis Mom will produce two different eggs.

T t

During fertilization one egg will fuse with one sperm.

To determine the different possible combinations (offspring), use a Punnett
Square.
T and t outside the square each represent a gamete. (25% homo Tall, 25% homo
short, 50% hetero-Tall)
T
D T
a t
d

TT
tT

t
Tt
tt

Mom

Humans have 46 chromosomes.

22 homologous pairs
1 sex chromosome pair, either XX or XY
o 22 + 1 = 23 pairs
Each chromosome in the pair can code for the same trait
o Ex. Chromosome #1 contains a gene that codes for eye color
Each person has 2- Chromosome #1s.
So a person can have a blue eye color gene on one #1
chromosome and a brown eye color gene on the other #1
Chromosome.
Dominant eye color will show over recessive BB or Bb
Dominant = Brown (B)
Recessive = blue (b)

Note: Only way to see blue eye color is if a person has two
blue eye genes (alleles), one on each homologous
chromosome #1 pair. (bb)

Sex Chromosomes:

Mom = XX
Dad = XY
o Y chromosome produces male characteristics.
o You can only get a Y from Dads sperm.
Therefore, Dads sperm determines the sex of the baby.

Sex linked genes

Some genes for other traits are found on the sex chromosomes.
Ex. Colorblindness trait is found on X chromosome. It is a recessive gene so a
non-colorblind gene dominates.
o Therefore, Girls XX need to receive an X colorblind-chromosome from
Mom and an X colorblind-chromosome from Dad to show
colorblindness.
o Boys however, only need to receive one X colorblind-chromosome from
Mom because there is no X-non-colorblind gene from Dad to dominate.

Other Gene Expressions

Co-dominance: expression of two dominant alleles at the same time.

Blood type A protein gene is dominant and so is B protein gene

i = recessive gene that lack a protein
Blood Types
Phenotype Genotypes
Type AB
AB
Type A
AA or Ai
Type B
BB or Bi

Type O

ii

Incomplete dominance or blending

Two alleles are only partially expressed give a phenotype that is blended
midway between the two genes.
Ex. 4 oclock plants have red flowers and white flower genes when a red
flower plant is crossed with a white flower plant, pink flowers are produced
o RW= pink, RR= red, WW= white

Natures Curveball:
Crossing over

Crossing over- the exchange of pieces of homologous chromosomes

during meiosis.
This exchange occurs during the first meiotic division in synapsis (tetrad)
when the 2 pairs are in close contact.
This exchange of pieces of DNA creates new genes that are not identical to
any of the parents genes.

Variation alert!!!!
***More variety = greater chance of survival
if environment changes!***
Environments effect on genes
Some environmental factors can switch genes on or off.
Examples:
Some bacteria only produce an enzyme when sugar is present.

In green plants certain genes are switched on and off by light hitting the
plant.

In Himalayan rabbits, fur color is affected by temperature.

When temperature of skin is lower like on the ears the hair will be
black instead of white like the rest of the body. Cold temperature turns
on the black pigment gene.

Chemicals and some viruses (HPV) can cause genes to turn on or off too.

Cancer and Oncogenes

Oncogenes- a group of genes that cause some kinds of cancer.

o They are normally switched off.
o When switched on they can lead to uncontrolled cell growth causing
cancer.

Mutations & Genetic Variability

Mutation- sudden change in the structure or amount of genetic material
Effect of Mutation
Beneficial- change allows organism to survive and thrive.
No effect- change is not in an area of the chromosome where any noticeable
effect is observed.
Harmful- disease or dysfunction results in the organism
Causes of Mutations
1) Random errors- naturally occurring during replication and expression
process
2) Mutagens- radiation (X-rays and UV light), chemicals (chloroform and
mustard gas)
Types of Mutations
Chromosomal- parts of chromosomes with several genes are changed
Single gene- addition, substitution or subtraction of one or more
nucleotides changes how a gene is read and results in a useless protein or no
protein at all, but always in place of the correct, needed protein and disease
results.

Disorders
Sex-Linked:
Hemophilia- unable to clot carried on X-chromosome (recessive)
Duchennes Muscular Dystrophy- muscle tissue begins to break down in
childhood- carried on X chromosome (recessive)

Autosomal Disorders (non sex-linked):

Sickle-cell anemia- sickle shaped red blood cell that caused clumping and
blocking of blood vessels and also cannot carry as much oxygen on blood cellcaused by one base pair change in a single protein- normal codon GAA is changed
to GUA
Phenylketonuria or PKU- enzyme responsible for breaking down phenylalanine
(amino acid) is missing- causes brain damage- a special diet without phenylalanine
must be eaten- must find it right away before too much damage is done!
Tay-Sachs disease- enzyme for breaking down lipids in the brain is missing- brain
damage results from a buildup of lipids in the brain- death results usually by age
fourprominent in Jewish families of Eastern Europe
Cystic Fibrosis- recessive allele on chromosome 7 produces a thick mucus that
clogs and damages the lungs making it very hard to breathe, can lead to deathmost common fatal genetic disease in U.S. - found in people with eastern European
ancestry- gene insertion therapy using viruses has been used to treat it by inserting
the good mucus gene located in the virus in place of the bad gene located in the
lung cell

**** Carrier is an individual that does not have the disease

but carries the recessive disease gene******
Huntington disease (Dominant allele disorder) - it only takes one allele to get
the disease!
Fatal disease that appears in a persons 30s and causes the progressive breakdown
of brain cells leading to death.

Chromosomal Disorder
Downs Syndrome- extra copy of chromosome #21- causes mental retardation
and physical abnormalities

Turners Syndrome- only one X-sex chromosome- results in underdeveloped sex

characteristics

Klinefelters Syndrome- cell has extra X chromosome, males are XXY, and
male has underdeveloped sex organs

Detecting Genetic Disorders

Karyotyping- a cell is photographed undergoing mitosis; enlarged, individual
chromosomes are cut out and arranged in pairs. Chromosomes differ in length,
shape, and position of the centromere. A patients karyotype is compared with a
normal persons karyotype.

Amniocentesis- removal of amniotic fluid from mothers womb through along

needle which contains some cells shed from the fetus. These cells are checked for
abnormalities in their genetic code. Chorionic sampling from placenta may also be
done.

Ultrasound- can detect any physical abnormalities

Genetic Engineering: Breeding Methods

Selective Breeding- only mating certain males with certain females or certain
plants with specific other plants to get the best possible offspring
Improves crops or animals produced
Hybridization- two individuals are mated to introduce new beneficial alleles
into the population
Male Donkey + Female Horse = Mule (superior in endurance, strength and
resistance to disease)(sterile)
Cloning- Organisms that reproduce asexually. Exact copy is produced
Possible applications: mass producing drugs, enzymes, new organs, new
organisms

Ethical Dilemma- How far should we go?