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Transcript
Activity 2.1.1: Student Response Sheet
Part I: Genetic Testing Pre-Survey
Before we begin our study of genetic disorders and genetic testing, think about each of
the following scenarios. Circle true or false in each case and explain why you chose this
option.
1. I feel it is a parent’s right to test a young child’s predisposition to genetic
diseases.
TRUE
FALSE
2. I feel I would like to be tested now to find out if I might have kids with a disease
even if it would not affect my own health.
TRUE
FALSE
3. I feel all newborn babies should be screened for all known genetic disorders.
TRUE
FALSE
4. I feel I would like to be tested now to find out if I might eventually develop a
disease (in my 30s and 40s) assuming that treatment might lower my risk.
TRUE
FALSE
5. I feel I would like to be tested now to find out if I might eventually develop a
disease (in my 30s and 40s) if no treatment is available.
TRUE
FALSE
© 2010 Project Lead The Way, Inc.
MI Activity 2.1.1 Student Response Sheet – Page 1
Part II: What is a Genetic Disorder?
Use information from the presentation to help you fill in the “Description” column of the
chart.
Type of Genetic
Disorder
Description
Single Gene
result of a single mutated
gene. There are
estimated to be over
4000 human diseases
caused by single gene
defects. Single gene
disorders can be passed
on to subsequent
generations in several
ways.
cystic fibrosis, sickle cell anemia, TaySachs disease, myotonic dystrophy,
Duchenne muscular dystrophy, Fragile
X syndrome and spinal muscular
atrophy.
Multifactorial
genetically linked
disorder that is not
purely the result of
heredity; they are the
result of multiple gene
mutations and
environmental factors.
cancer, diabetes, heart disease
Chromosomal
chromosome anomaly,
Downs, turners, trisomy 18 (Edwards)
abnormality or aberration
is a missing, extra, or
irregular portion of
chromosomal DNA
Mitochondrial
disorders caused by
dysfunctional
mitochondria, the
organelles that generate
energy for the cell.
Mitochondria are found
in every cell of the
human body except red
blood cells.
-
recessive
-
dominant
-
sex-linked
Example(s) - include information about the cause of
the disease as well as how the disease affects the patient.
Diabetes, Lebers, Leighs,
Myoneurogenic gastrointestinal
encephalopathy (MNGIE) , Myoclonic
Epilepsy with Ragged Red Fibers
(MERRF),
© 2010 Project Lead The Way, Inc.
MI Activity 2.1.1 Student Response Sheet – Page 2
Research the following disorders and match them with the appropriate type of genetic
disorder.
Duchenne Muscular Dystrophy
a severe form of muscular dystrophy caused by a genetic defect and
usually affecting boys.
Cystic Fibrosis
hereditary disorder affecting the exocrine glands. It causes the
production of abnormally thick mucus, leading to the blockage of the
pancreatic ducts, intestines, and bronchi and often resulting in
respiratory infection.
Huntington’s Disease
a hereditary disease marked by degeneration of the brain cells and
causing chorea and progressive dementia.
Down Syndrome
a congenital disorder arising from a chromosome defect, causing
intellectual impairment and physical abnormalities including short
stature and a broad facial profile. It arises from a defect involving
chromosome 21, usually an extra copy (trisomy-21).
Leber hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a
mitochondrially inherited (transmitted from mother to offspring)
degeneration of retinal ganglion cells (RGCs) and their axons that
leads to an acute or subacute loss of central vision; this affects
predominantly young adult
Alzheimer’s Disease
progressive mental deterioration that can occur in middle or old age, due
to generalized degeneration of the brain. It is the most common cause of
premature senility.
© 2010 Project Lead The Way, Inc.
MI Activity 2.1.1 Student Response Sheet – Page 3