Transcript Genetic Conditionsx

GENETIC CONDITIONS
AND
THE SCIENCE OF GENETICS
Understanding which chromosomes have been
affected helps physicians diagnose and treat
patients with genetic disorders or syndromes.
 A syndrome is a particular disease or disorder
with a specific group of symptoms that occur
together.

Down syndrome
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Down syndrome is one of the
most frequently occurring types
of chromosome mutations.
have characteristic facial
features and shorter stature
and may be prone to developing
heart defects and diseases
such as Alzheimer’s and
leukemia.
Ninety-five percent of the cases
of Down syndrome are caused
by an extra 21st chromosome
Cystic Fibrosis
is a common recessive genetic disease which
affects the entire body
 Difficulty breathing is the most serious
symptom
 multitude of other symptoms, including sinus
infections, poor growth

Allderdice Syndrome
One genetic disease was discovered in the
isolated community of Sandy Point, on the west
coast of the island of Newfoundland.
 caused by a mutation of a single chromosome
 a low birth weight, hand and facial
abnormalities, and psychomotor dysfunction
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MAJOR SHIFTS IN SCIENTIFIC UNDERSTANDING
OF GENETICS
 Mendel’s
experiments
 Watson and Crick’s double helix model of DNA
 Human Genome Project
 genetic engineering
Mendel’s experiments
Gregor Mendel developed the
model of heredity that now bears
his name by experiments on
various charactersitics of pea
plants: height (tall vs. Short); seed
color (yellow vs. Green); seat coat
(smooth vs. wrinkled), etc.
 He mapped out traits in plants
through cross breeding
experiments.
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Watson and Crick’s double helix
model of DNA
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April 1953 James Watson and
Francis Crick presented the
structure of the DNA-helix,
in 1962, they shared the Nobel
Prize in Physiology or Medicine
When you shine X-rays on any
kind of crystal – and some
biological molecules, such as
DNA, can form crystals if treated
in certain ways – the invisible
rays bounce off the sample.
Human Genome Project

Begun formally in 1990 completion date 2003
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, and
 address the ethical, legal, and social issues (ELSI) that
may arise from the project.
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genetic engineering

Genetic engineering, is the direct human
manipulation of an organism's genome using
modern DNA technology
 Industrial
 Agriculture
 Medicine
CELLULAR FUNCTIONS AND THE DEVELOPMENT
OF TECHNOLOGIES
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AS our knowledge increases in the use of DNA
it is expected that new technologies will
develop to exploit this knowledge.
 Nanotechnology
manipulating matter on an atomic
and molecular scale
CANADIAN CONTRIBUTIONS HEREDITY AND
GENETIC ENGINEERING
Dr. Terry-Lynn Young
Memorial
 University researcher
 identified the gene
responsible for a
condition that causes
the sudden death of
young men,
arrhythmogenic right
ventricular
cardiomyopathy (ARVC)
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