Transcript Genetic Disorders

BACTERIAL GROWTH

bacterial growth - Google Video
GEL ELECTROPHORESIS ANIMATION
Gel Electrophoresis
 Gel Electrophoresis Virtual Lab
 NOVA Online | Killer's Trail | Create a DNA
Fingerprint

GENETIC DISORDERS

Phenylketonuria (PKU)
 Autosomal
recessive genetic disorder
 characterized by a deficiency in the enzyme hepatic
phenylalanine hydroxylase (PAH
 necessary
to metabolize the amino acid phenylalanine to
the amino acid tyrosine

Sickle Cell Anemia
 Recessive
 Mutation
in hemoglobin gene
 RBCs are crescent shaped

Cystic Fibrosis
 Autosomal
recessive disorder
 Deficiency of an enzmye
 harmful quantities of a fatty acid derivative called a
ganglioside accumulate in the nerve cells of the
brain
 Common among Jewish descent

Tay-Sachs
 Sex
linked dominant disease
 Mutation in a gene
 Buildup of mucus affecting lungs, liver, pancreas,
intestines
 Common among
Caucasian descent
GENE EXPRESSION
IF ALL THE CELLS IN YOUR BODY HAVE THE
SAME DNA, HOW ARE THEY DIFFERENT?

Each kind of cell (ex. Skin, nerve, muscle) uses
only some of the genetic information it contains
A human liver cell and a human skin cell in the
same person have the same genetic sequences.
However, these cells are different because the
liver cell
 (1) has more dominant traits than the skin cell
 (2) can reproduce but the skin cell cannot
 (3) carries out respiration but the skin cell does
not
 (4) uses different genes than the skin cell
ENVIRONMENTAL INFLUENCE
STEM CELL

undifferentiated
HIMALAYAN RABBIT

Temperature influenced gene
HYDRANGEA

Petal color changes based on
pH of soil
Basic- blue
Neutral- pink
IDENTICAL TWINS

Have same DNA
CHLOROPHYLL PRODUCTION GENE
On- in sunlight
 Off- in dark

HUMAN GENOME PROJECT
Project goals were to
 identify all the approximately 20,000-25,000
genes in human DNA
 determine the sequences of the 3 billion chemical
base pairs that make up human DNA
 store this information in databases
 improve tools for data analysis
 transfer related technologies to the private sector
 address the ethical, legal, and social issues (ELSI)
that may arise from the project.
13-year project coordinated by the U.S.
Department of Energy and the National
Institutes of Health
 Completed in 2003
 Wellcome Trust (U.K.) became a major partner;
additional contributions came from Japan,
France, Germany, China, and others

BENEFITS
Some current and potential applications of genome
research include
 Molecular medicine
 Energy sources and environmental applications
 Risk assessment
 Bioarchaeology, anthropology, evolution, and
human migration
 DNA forensics (identification)
 Agriculture, livestock breeding, and bioprocessing