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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 thesame person have the same genetic sequences.However, these cells are different because theliver 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- blueNeutral- pink

IDENTICAL TWINS Have same DNA

CHLOROPHYLL PRODUCTION GENE On- in sunlight Off- in dark

HUMAN GENOME PROJECTProject 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

BENEFITSSome 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