HUMAN DISORDERS REVIEW
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1. Name
the genetic disorder caused by a mutation in the hemoglobin gene that
causes red blood cells to change shape. |
2.
Which food group must persons with phenylketonuria (PKU) avoid in order to prevent mental
retardation?
Carbohydrates
Fats
Proteins
Nucleic acids
3. How is a pedigree different from a karyotype?
4.
Mutations that cause death are called ______________ mutations.
5.
Give an example of an AUTOSOMAL RECESSIVE genetic disorder.
6. Tay-Sachs
disorder is more common in people whose ancestors are from which group of
people?
A. African Americans
B. Caucasians
C. Jewish or Middle Eastern/Mediterranean
7.
People with Cystic Fibrosis _______________
A. can’t transport Chloride ions
B. can’t clot their blood
C. accumulate lipids in
their brains
D. are “little people”
8.
Give an example of an AUTOSOMAL DOMINANT genetic disorder.
9.
Tell how hemophilia is inherited. (CHOOSE TWO)
Autosomal X-linked
Dominant Recessive
10.
The failure of homologous chromosomes to separate during meiosis is
called _________.
11.
Name a genetic disorder caused by #10.
12.
An organized picture of an individual’s chromosomes is called a
______________.
13.
Tell how Huntington’s disorder is inherited. (CHOOSE TWO)
Autosomal
X-linked
Dominant Recessive
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14. Tell the
sex of the person in this karyotype. |
15.
Persons who are heterozygous for sickle cell disease are resistant to a
parasitic disease carried by mosquitoes called _____________ .
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16. Which genetic
disorder does this person have?
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17.
Name a genetic disorder that is X-LINKED.
18.
X-LINKED RECESSIVE disorders show up more in which sex?
FEMALES
MALES
19.
Persons with ______________ can’t make a blood clotting protein and can bleed to
death from a cut or bruise.
20. Inactivated X chromosomes seen as dark spots attached to the nuclear membrane in female cells are called _____________________
21.
Persons with ACHONDROPLASIA __________________
A. can’t make blood clotting factors
B. have defective chloride ion channels
C. are resistant to malaria
D. are also called “little people”
22.
The chromosomes that are NOT sex chromosomes are called _________________.
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23. Which
individuals in
this pedigree are males that show a recessive
genetic disorder?
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24.
Grandpa and Grandma in the diagram above are represented by shapes that are half
filled in. What does this mean?
25.
Many autosomal recessive mutations that cause genetic disorders stay in
populations because individuals with one mutant allele and one normal allele
have some benefit. This is called ______________
26. A
female with only one X chromosome has_____________ syndrome.
27.
Which genetic disorder is found in a pedigree of the royal families of Europe?
28.
Sickle cell disease is more common in people whose ancestors are from which
group of people?
A. African Americans
B. Caucasians
C. Jewish or Middle Eastern/Mediterranean
29.
TRUE or FALSE
MALES
CAN'T be carriers for AUTOSOMAL RECESSIVE disorders.
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30.
Tell how Colorblindness is inherited.
(CHOOSE TWO) Autosomal OR X-linked
Dominant
OR Recessive |
31.
__________ is a condition, like Down syndrome, in which cells have THREE copies
of one of its
chromosome pairs.
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32. A male with
an XXY karyotype has _________________ syndrome. |
33. How many Barr bodies do normal male cells have?
34. A
change in the genetic code of an organism is called a _______________.
35.
Autosomes are found in
only gametes
only somatic cells
both gametes and somatic cells
36. Cystic fibrosis is more common in which ethnic group?
37.
Name a genetic disorder you learned about that could be called a trisomy.
38.
Which of the following is inherited as an AUTOSOMAL RECESSIVE disorder?
A. Down syndrome
B. Tay-Sachs
C. Huntington’s disease
D. Duchenne Muscular Dystrophy
39.
TRUE or FALSE
Females can’t show X-linked recessive disorders like colorblindness or
hemophilia.
40.
Which parent determines the sex of the baby?
Mother
Father
41. A
diagram that shows how genes are passed on in families over several generations
is called a _________________.
42.
The genetic disorder in which thick mucous builds up in the lungs and digestive
organs is called __________________.
1. sickle cell disease
(anemia)
2. proteins
3. Karyotypes show the chromosomes from one individual; pedigrees show
phenotypes of many individuals in a family over many generations
4. lethal
5. Tay-Sachs, Phenylketonuria (PKU), or cystic fibrosis
6. C. Jewish or Middle Eastern/Mediterranean
7. A- can't transport Cl- ions
8. Huntington's disease or Achondroplasia
9. X-linked recessive
10. nondisjunction
11. Down syndrome, Turner syndrome, or Klinefelter syndrome
12. karyotype
13. Autosomal Dominant
14. 2 X's; no Y = female
15. malaria
16. Turner syndrome (only one X chromosome)
17. Colorblindness, hemophilia, Duchenne Muscular Dystrophy (DMD)
18. males
19. hemophilia
20. Barr bodies
21. are also called "little people"
22. autosomes
23. Bobby and Ryan (filled in squares)
24. They are carriers; they have one normal allele and one allele with the
mutation for the genetic disorder
25. heterozygote advantage
26. Turner
27. hemophilia
28. A. African Americans
29. FALSE (They have 2 of each autosome so they could have one normal
allele and mutation)
30. X-linked recessive
31. trisomy
32. Klinefelter
33. none, males only have one X chromosome
34. mutation
35. all cells have
autosomes; these are the chromosomes that carry genes for all your traits!
36. caucasians
37. Down Syndrome = Trisomy 21
38. B- Tay-Sachs
39. FALSE-Females can show it; They just need 2 mutant X's
40. father
41. pedigree
42. cystic fibrosis