Human Genetic Disease Brochure
FRONT FOLD
1) Cause
-- (a) Is this caused by one gene or a combination of genes?
-- (b) What gene/s is/are affected?
-- (c) Identify the protein that is not adequagely being produced by the faulty gene.
-- (d) Describe the normal function of this protein.
-- (e) Is this an autosoman or sex-linked trait?
-- (f) What type of gene inheritance is demonstrated? (Dominant or recessive / codominant / multiple allele / gene amplification)
-- (g) Explain the type of gene mutation noted above.
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2) Gene Loci
-- (a) On which numbered chromosome(s) is this gene or genes located?
-- (b) State the specific loci of the gene (such as P or Q arm ex. P22.364)
-- (c) Try to include a photo of the chromosome map indicating the specific gene loci.
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INSIDE MIDDLE
1) Statistics
-- (a)Are more males or females affected?
-- (b) Are there any religious groups that have a higher incidence of this disorder?
-- (c) Are there any ethnic groups that seem to have a higher incidence of this disorder?
-- (d) What is the life expectancy of someone with this disorder?
-- (e) At what age does one start to exhibit symptoms?
-- (f) What is the incidence of this disorder? (How common is it?)
2) Symptoms (Characteristics of this disorder)
-- (a) Patient's Symptoms:
-1- Physical
-2- Mental (Describe their ability to think and to learn, mental age or IQ)
-3- Emotional
-- (b) Family's Symptoms:
-1- Describe the impact on the rest of the family. How does having a child with this disorder impact the rest of the family? Does this child require additional care and attention compared to the rest of the family? Will having a child with this disorder impact the family financially?
3) Diagnostic Testing
-- (a) Are there any prenatal tests to diagnose this condition prior to birth? If so:
-1- What is the test?
-2- Describe how the tests are performed.
-3- At what time during the pregnancy should the testing be performed?
-4- Does the test pose any risk to the unborn child? If so, what?
-- (b) Are tehre any screening tests that can be performed on the parents prior to the pregnancy to determine if they are carriers? If so:
-1- What are the tests?
-2- How are they performed?
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1) Current Treatment
-- (a) Are there any medications that can be given? If so:
-1- What is the medicine? Be specific.
-2- What is the purpose of the medicine?
-3- When and how should it be taken?
-- (b) Does the person's diet need to be adjusted? If so, how? What foods need to be included / omitted? Why?
-- (c) Is physical therapy suggested? If so, describe the type of therapy to be administered.
-- (d) Is gene therapy possible? If so, how is the gene administered?
-- (e) Is surgery possible? If so:
-1- What surgery?
-2- When is it performed?
-- (f) Other
2) Pedigree
-- (a) Try to include a standard circle/squeare pedigree which demonstratedthe pattern of inheritance. (You may download this from the computer, or photocopy one from a text.)
-- (b) You may also construct a fictitious pedigree that correctly demonstrates the pattern of inheritance.
-1- Include a key.
-2- Include a brief explanation of the pedigree.
-3- Include at least three generations of a family.
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BACK MIDDLE
-Your names and hour
-Genetics Unit
-Ball High Spring Semester 2005
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BIBLIOGRAPHY
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