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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.

I feel it is a parent’s right to test a young child’s predisposition to genetic
diseases.
TRUE

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
I feel all newborn babies should be screened for all known genetic
disorders.
TRUE

FALSE
FALSE
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

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
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
-single gene disorders caused
by changes or mutations that
occur in the DNA sequence of
one gene

recessive

dominant

sex-linked
Example(s) - include information about the cause of
the disease as well as how the disease affects the patient.
- gene that produces its
characteristic phenotype only when
its allele is identical
-gene that produces the same
phenotype in the organism whether
or not its allele identical
-allele related to the chromosomal
sex of the individual
Autosomal Dominant
-Familial Hypercholesterolmia
-Polycysitc Kidney Disease
-Huntington Disease
-Hereditary Spherocytosis
-Marfan Syndrome
Autosomal Recessive
-Sickle Cell Anemia
-Cystic Fibrosis
-Tay-Sachs Disease
-Phenylketonuria
-Mucopolysaccharidoses
-Glycogen Storage Disease
-Galactosemia
X-LInked
-Duchenne Muscular Dystorphy
-Hemophilia
Multifactorial
-combination of environmental
factors and mutations in
multiple genes
-Heart Disease
-Diabetes
-Obesity
Chromosomal
-missing or extra copies of
genes, or breaks, deletions or
rejoinings of chromosomes
-Downs Syndrome
-Turner Syndrome
-Wolf-Hirschhorn Syndrome
-Triple X Syndrome
-Cri du Chat Syndrome
Mitochondrial
-mutations in
nonchromosomal DNA of
mitochondria
-Lebers
-Leighs
-Myoclonic Epilepsy with Ragged Red
Fibers (MERRF)
-Myoneurogenic Gastrointestinal
Encephalopathy (MNGIE)
Research the following disorders and match them with the appropriate type of
genetic disorder. Record information about each disease in the “Example”
column of the chart.





Duchenne Muscular Dystrophy

-This particular disorder usually affects boys. It is
characterized by progressive skeletal muscle weakness,
defects in muscle proteins, and the death of muscle cells
and tissue.

-This affects the exocrine glands. Thick mucus is produced
and therefore blocks the pancreatic ducts and other parts
of the exocrine glands.
Cystic Fibrosis
Huntington’s Disease

-In this disease, brain cells have been degenerated and
have caused chorea and progressive dementia.

-This a chromosone defect of chromosome 21. Intellectual
impairment and physical abnormalities are caused.
Down Syndrome
Leber hereditary optic neuropathy


-It is transmitted from the mother to the offspring. Retinal
ganglion cells have been degenerated and cental vision is
lost.
Alzheimer’s Disease
 -This can occur in middle or old age and it is casued by the
degeneration of the brain.
http://www.ucsfhealth.org/conditions/hemophilia/signs_and_symptoms.html
http://www.medicalnewstoday.com/articles/154880.php