Bio22Lec: Genetics

Anna Theresa A. Santiago,

MPH
 Lecture Content
• Basic concepts & historical background
• Classical Genetics (Mendelian)
– Genetic heirarchy
– Laws of Segregration
& Independent Assortment
– Genotype vs. Phenotype
• Mutations
• Modern Genetics
 What is Genetics?

…the study of heredity

…and so? Why do we have

to bother?
All living things are products of nature
and nurture…
Genetics has impacted lives
since antiquity…
 Ancient people
practiced
genetic
techniques in
agriculture (of
course they
didn’t know
that it was
genetics).
Assyrian bas-
relief
showing
articificial
pollination of
date palms
(dated 883-
 Leopold

Hemophilia (sex-linked disorder leading to

absence of a clotting factor: either VIII or
IX) was passed down through the royal
families of Europe
Leeuwenhoek
Out of curiosity, he
examined
tiny creatures after
fabricating
~500 microscopes. He
was
inspired by Robert
Hooke’s
Micrographia.
Gregor Mendel
(1822-1884) was
an Austrian monk
(Agustinian) who
bred pea plants for
ative forms of the 7 characteristics Mendel observed
Plant Part Characteristic Alternative Forms
(dominant vs. recessive)
Seeds 1. Shape Round Wrinkled
2. Cotyledon Yellow Green
color
3. Coat/ Flower Gray/ Violet White/ White
color flowers flowers
Pods 4. Length Full (smooth) Constricted
(crumpled)
5. Color Green Yellow
Stem 6. Arrangement Axial pods & Terminal pods
of plant parts flowers along & flowers on
stem top of stem
7. Height Tall Dwarf
♂
♀
 Genes
(words)

Alleles Chromosome
(letters/spelling) (phrase)
 Genome
(entire manual of
23 pages)

y possible combinations lead to different offsp

A gamete (egg or sperm)
Only gets one allele from
the parent cell due to
meiosis; fertilization
Brings back the 2n condi
Genotypes & Phenotypes
Mutations occur due to
“misspellings” of genes
Why is Genetics
so Important?

Diastrophic dysplasia

The Green Revolution of

the 50’s and 60’s used
genetic techniques to
develop new strains of Genes influence
crops for increased susceptibility to many
world food production. diseases and
disorders.
Human Genome Project
Milestones:
■ 1990: Project initiated as
joint effort of U.S.
Department of Energy
<>
and the National
Institutes of Health
■ June 2000: Completion of
a working draft of the
entire human genome
■ February 2001: Analyses
of the working draft are
published
■ April 2003: HGP
sequencing is
completed and Project
 What does the draft human
genome sequence tell us?

• The human genome contains 3 billion nucleotide bases

• The average gene consists of 3000 bases
• The total number of genes is estimated at around 30,000--
much lower than previous estimates of 80,000 to 140,000
• Almost all (99.9%) nucleotide bases are exactly the same in
all people.
• The functions are unknown for over 50% of discovered
genes (only 2% code for proteins, the rest is junk)

U.S. Department of Energy Genome Programs, Genomics and Its Impact on Science and Society, 2003
 How does the human genome
stack up?

Organism Genome Size Estimated

Human (Homo sapiens) (Bases)
3 billion Genes
30,000
Laboratory mouse (M.
2.6 billion 30,000
musculus)
Mustard weed (A. thaliana) 100 million 25,000
Roundworm (C. elegans) 97 million 19,000
Fruit fly (D. melanogaster) 137 million 13,000
Yeast (S. cerevisiae) 12.1 million 6,000
Bacterium (E. coli) 4.6 million 3,200
Human immunodeficiency
9700 9
virus (HIV)
Beyond the HGP: What’s
Next?

HapMap Systems Biology

Chart genetic variation Exploring Microbial Genomes for
within the human genome Energy and the Environment
 GTL Applications in
Energy Security and Global Climate
Change
End of Lecture