Name __________________________________________________date _________________
Human Pedigree Web-quest
http://www.ncbi.nlm.nih.gov/books/NBK21257/
Human Pedigree Analysis
1. Why are pedigrees necessary for humans?
2. What is another name for a pedigree?
3. Draw the following symbols:
a. Male
b. Female
c. Affected individual
d. Heterozygotes
Autosomal Recessive Disorders
4.
5.
6.
7.
What determines the phenotype of a recessive disorder?
How do we know if a disorder is autosomal and not sex linked?
What can be deduced about the parents of in this pedigree? >>>>
What are the genotypes of the first and fourth offspring?
a. Why are these genotypes incomplete?
8. Why are Mendelian ratios rarely observed in single families?
9. Why do the pedigrees of autosomal recessive traits usually look bare?
10. What are responsible for many recessive diseases?
11. What causes albinism?
12.Describe the specific mutation that causes albinism. (Open figure 4-20.)
Autosomal Dominant Disorders
13. Draw a pedigree of the autosomal dominant disorder acondroplasia. Draw the father,
mother and 4 children. Indicate any deaths.
14. What are the main clues to identifying an autosomal dominant disorder?
15. What is the typical ratio of an autosomal dominant disorder?
a. What genotypes result in this ratio?
16. List and describe an autosomal dominant disorder.
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X-Linked Recessive Disorders.
17. List two characterisitics of sex-linked recessive triats.
18. Describe:
a. Hemophilia
b. Duchenne Muscular Dystrophy
19. Look at fig 4-24.
a. What individual did III1 receive a recessive gene from?
20. Look at fig 4-25
a. What event in generation III may have increased the frequency of hemophilia in
the royal family?
b. Are the children of Prince Charles and Diana hemophiliacs?
Calculating the Risks in Pedigree Analysis
21. What type of disorder is illustrated by the pedigree? (Assume it is not sex linked.)
22. What can you tell about all of the individuals in generation I, based on the results of
generation II?
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Genetics Web-quest
http://www.biology.arizona.edu
Select “Karyotyping.” (Far left-hand side)
 Read the introduction.
 To continue, select “Patient Histories”
 You will select the patient karyotypes and complete each activity associated with it.
 For the karyotypes, a picture of a chromosome will be displayed at the top of the page.
Possible matches will be highlighted in blue. Click on the highlighted chromosome that
matches the picture at the top of the page. You will be informed if you matched correctly,
and will then be given another chromosome to match. You will continue matching
chromosomes until the karyotype is completely filled in.
 Answer the questions that follow the completed karyotype on this sheet.
NOTE: The first page for each patient will take a few minutes to load. Be patient. The remainder of
the pages will load quickly.
Patient A
A.1. ___________________________________
A.2. ___________________________________
Describe patient A. How were the chromosomes for this karyotype obtained?
Patient B:
B.1. ___________________________________
B.2. ___________________________________
Why did Patient B originally seek the medical treatment that led to this karyotype being made?
Patient C:
C.1. ____________________________
C.2. ____________________________
What were patient C’s abnormalities and what happened to him?
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Google search the following. Use only credible websites.
Disorder
Down Syndrome
Turner Syndrome
Patau Syndrome
Fragile X Syndrome
Cri du Chat
Trisomy 18
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Chromosome affected
Symptoms