Things to Know for the Test – Human Genetics
1. How many pairs of autosomes are in a human cell?
2. What is the most common fatal genetic disease?
3. How many c’somes does a human sperm cell contain?
4. Genetic disorder that is written as 47XXY?
5. Metabolic disorder that every newborn in PA is screened for?
6. What is used to follow a trait through a series of generations?
7. If a female is a hemophiliac and a male is normal, what are the chances of them having a kid with hemophilia?
8. What sex-linked disorder causes a person to lose control of their muscles?
9. What is a characteristic of an autosomal dominant genetic disorder?
10. What are the sex chromosomes of a female?
11. How many sex chromosomes are in a human cell?
12. Disorder in which a person has an extra copy of chromosome #21?
13. If a female is a carrier for colorblindness and the male is colorblind, what are the chances that they will have a colorblind girl?
14. Genetic disorder in which a person lacks skin pigment?
15. Defective gene that causes most cases of cystic fibrosis?
16. Genetic disorder that attacks the nervous system and is prevalent in Jewish and French Canadian populations?
17. Two disorders caused by excessive repeats of three nucleotides?
18. What symbol in a pedigree is used to represent a normal male?
19. What symbol in a pedigree is used to represent a female that is heterozygous?
20. What symbol is used to represent two people that are married?
21. Disorder when a person has skin spots that develop into benign tumors?
22. Genetic disorder when a person is missing a sex c’some?
23. What process causes chromosome number disorders?
24. If a father has a sex-linked disorder, what is true of his kids?
25. If a mother has a sex-linked disorder, what is true of her kids?
26. What must be true if an offspring has an autosomal recessive disorder?
27. An autosomal dominant disorder in which symptoms don’t show until the 30s or 40s?
28. Disorder where a thick mucous builds up in the lungs?
29. What are the chances that someone with an autosomal dominant genetic disorder will have a kid with the disorder?
30. What type of disorder is illustrated by the karyotype below?
31. What disorder is illustrated by the karyotype below?
32. What inheritance pattern is illustrated by each of the pedigrees below?
33. On what chromosomes are most of the genetic disorders located?
34. Determine if the genetic disorders below are sex-linked, autosomal dominant or recessive, the result of a c’some number disorder, or the result of excessive trinucleotide repeats.
a. cystic fibrosis
b. hemophilia
c. Huntington’s disease
d. Duchenne muscular dystrophy
e. PKU
f. Tay-Sachs
g. Down syndrome
h. Kleinfelter’s syndrome
i. neurofibromatosis
j. albinism
k. galactosemia
l. colorblindness
m. fragile X
35. What antigens are present for the following blood types: A, AB, O, B+?
36. Is it OK to give an Rh- person receive Rh+ blood? Why or why not?
37. What type of blood can you safely give someone who is type: A? O? AB?
38. What is the difference between an antigen and an antibody?
39. Can an AB mother have an O child? Why or why not?
40. What is X-inactivation? Does it occur in males, females, or both?
41. Describe the inheritance of mitochondrial diseases.
42. What is a chromosome translocation?
Short Answers.
43. Explain what happens if a mother has a sex-linked disorder and why?
44. What is the difference between an autosomal genetic disorder and a sex-linked disorder? Which is more common and why? Do any of the disorders affect males more than females or vice versa? If so, why?
45. Construct a pedigree for the scenario below. Include proper symbols and genotypes.
Ø Joe and Lisa Smith are married and have 4 daughters.
Ø Susan, the oldest is married and has 2 boys, Dave and John. John has cystic fibrosis.
Ø Kristin, the second oldest is married and has a normal daughter.
Ø Taryn, the third oldest is married and has 3 boys and the oldest has cystic fibrosis.
Ø Tracy, the youngest isn’t married but has cystic fibrosis.