1. Introduction to Genetic Expression

2. Father sperm gamete Mother egg gamete 46 chromosomes(2N) 22 autosomes+
1 sex chromsome (X or Y) =
23 total chromosomes(1N)
22 autosomes +
1 sex chromosome (X) =
23 total chromosomes(1N)
46 chromosomes(2N)

3. is held by Myrmecia pilosula a species of ant. Females
The record for minimum
number of chromosomes
is held by Myrmecia pilosula
a species of ant. Females
have 2 chromosomes per
cell while males have only
one chromosome.
Common Name
Genus and Species
Diploid Chromosome Number
Buffalo
Bison bison 60
Cat
Felis catus 38
Cattle
Bos taurus, B. indicus
Dog
Canis familiaris 78
Donkey
E. asinus 62
Goat
Capra hircus
Horse
Equus caballus 64
Human
Homo sapiens 46
Pig
Sus scrofa
Sheep
Ovis aries 54
The record for maximum
Number of chromosomes.
Ophioglossum reticulatum
a type of fern, has 1260
chromosomes per cell!!!

4. These 46 chromosomes can be arranged by number in a procedure known as
a karyotype. The father’s sperm determine the gender of the baby.
Sons receive a Y sex chromosome from their father. Daughters receive an X
from their father. Mother’s only give X sex chromosomes.
What is this baby???

5. After careful staining, one will find distinct banding patterns on chromosomes.
These banding patterns can be used to not only identify pairs, but also to specify
the location of particular gene sites on each chromosome. Diagrams like these
are used for gene mapping.

6. A gene is a string of bases(ACTGs) that code(genotype) for a protein that
functions within the chemistry of an organism to eventually be expressed as a
particular physical manifestation(phenotype). Gene mapping is performed in a
manner that is universal so research scientists and geneticists can share their
studies of genes and their variations(alleles) across the globe.

9. ALD?
On the surface of peroxisomes, there is a transport protein that brings an enzyme into the peroxisome to break down very long chain fatty acids. ALD is a result in a mutation in this protein that prevents it from functioning properly.

10. The white matter of the brain, including myelin, depends on the perfect blend of lipids(fats) and protein to be constructed properly. It is still not entirely understood how excessive VLCFA(very long chain fatty acids) affect this white matter, but all the symptoms point to the imbalance as the cause of the disorder.

11. The Code is DeoxyriboNucleicAcid and RiboNucleicAcid
Of these two main types combined, there are only five unique
nucleotides(code letters) and all of them are made of the
elements: carbon, nitrogen, hydrogen, oxygen, phosphorous
Nitrogenous Base
Phosphate group
Determines the
actual code letter
of the molecule
A C T G or U
backbone
of double helix
Sugar

12. amino
acids
Alleles are variations in the code at a particular gene. These variations
arise in the form of base differences in the DNA. These changes affect
chemistry by changing specific amino acids in the protein that is being
constructed. A different amino acid sequence results in a change in the
shape of the protein…which affects its function. In most cases, the
origin of various alleles are mutations.

13. Mutation Types The quick brown fox jumps over the lazy dog.
original
The quick brown fox jumps over the lazy dog.
point
The quick brown sox jumps over the lazy dog.
insertion
The quick brown fox jumps cove rth elaz ydo g.
The quick brown fox overt hela zyd og.
deletion
The quick brown fox jumps gody zal ehtr evo.
inversion

14. Whether or not an allele is beneficial depends on environmental factors. Every organism is 100% genetic and 100% environmental. Even identical twins are unique!
Adaptation is how an individual organism’s genetics interacts with the environment within its lifespan.
Evolution is the process where variations within the gene pool of a population are selected by the environment.
100%
100% +

15. So how does genetics interact with the
Environment?
PROTEINS

16. The order of amino acids
dictates how a polypeptide
(protein) will fold up on itself.
Different amino acids are
attracted to and repulsed
from one another in varying
degrees.
This extremely complicated
and dynamic interaction
results in a very specific
three dimensional shape for
each protein.

17. Enzymes as keys Just like there is only one shape of key that
will open this lock, for each chemical reaction
in a living creature there is a specific protein
that will catalyze(unlock) it.

18. Most enzymes end with the suffix –ase. The rest of their
name is usually reflected in the substrate on which they
act. LactoseLactase ATP created ATP synthetase etc.

19. Alleles and mutations are modifications in the shape of
these catalytic enzymes…some convey an advantage
and others do not. Much of the potential benefit depends
directly on environmental conditions. Malaria and its
relationship with sickle cell is an example of one such
condition.
nasty mosquito
(vector/carrier)
sickle cell
(defense)
plasmodium
(disease causing
protozoan)

20. An interesting trend was discovered where the gene frequency of
the sickle cell allele was correlated with the distribution of malaria.
Subsequently it was found that some individuals with the sickle cell
allele were more apt to survive infection. This advantage was most
profound in young children(6-18months). At its root, the environment
has selected for the frequency of the sickle allele to increase since
survivors are able to pass on their genes to offspring.

21. Sickle cell is a result of a change
At the sixth amino acid of the beta
Chain protein subunit of hemoglobin.
Normal cells have:
glutamic acid = GAA or GAG
Sickle cells have:
Valine = GUA / GUG / GUU / GUC
This seemingly simple change has
large effects on blood cells.

22. Homozygous dominant - HbSS
These people have normal blood cell function and do not have the
environmental advantage against malaria.
Heterozygous - HbSs
These individuals have one allele for the normal form of the protein
and one for the sickle form. These are the individuals who have an
advantage in an environment with malaria present.
Homozygous recessive - Hbss
Without a normal form of the protein, these people acquire sickle
Cell disease. This disease shortens lifespan drastically and results
In a host of problems from kidney failure to hypoxia during exertion.

23. Pedigree: Sickle Cell Disease (autosomal)
= male
= female

24. Pedigree: X-linked Red/Green Colorblindness
= male
= female

25. It is important to remember that the environment is not sentient. It
does not think about what is best, nor does it orchestrate these
manipulations with the least bit of logic or rational thought. The
principle is quite simple. If an organism survives long enough to
reach reproductive age, finds a mate, and successfully procreates,
nature has selected that organism’s traits for at least one more
generation.