Genetics, Part 3: Human Genetics Review Questions

1.     What is the most common lethal genetic disease among U.S. Caucasians? answer  What is the most common lethal genetic disease among U.S. Blacks? answer  What is the most common lethal genetic disease among Jews of eastern European descent? answer

2.     Describe each of the following: a. inversion b. translocation c. deletion d. duplication e. monosomy  f. trisomy

3.    What causes Down syndrome? answer

4.    Genetically engineered treatment involving delivery by aerosol of a normal human gene in a virus is being clinically tested in which disease? answer

5.    What genetic disease is the inability to produce factor VIII in the blood? answer

Use the following genetic diseases or traits to answer the 3 questions below.

Tay sachs, sickle-cell anemia, cystic fibrosis, Huntingtons disease, trisomy 21, trisomy 18, trisomy 13, polyploidy, Turner’s syndrome, triple-X syndrome, Klinefelter syndrome, Jacob’s syndrome, cri du chat syndrome, fragile-X syndrome, PKU, Neurofibromatosis, red or green colorblindness, hemophilia, Duchenne muscular dystrophy, pattern baldness, length of 3^rd (ring) finger

6.    Which of the above genetic diseases that are caused by a chromosomal abnormality? For each of the the diseases caused by chromosomal abnormalities, state the chromosome composition of the individual. For example: trisomy 21 (Down syndrome) is 3 copies of chromosome 21.

7.    List the genetic diseases or traits in the list above that are caused by a single gene. Tell whether the disease or trait is autosomal dominant, autosomal recessive, X-linked recessive, or sex-influenced.

8.    Describe the characteristics of each of the diseases or traits listed.

9.    Describe the genetic condition in which a person has 3N chromosomes. What is the liklihood of a normal life? What is the name of this condition? answer

10.    Describe how a karyotype is prepared. answer

11.    Why is sickle-cell disease so common? answer  Why is tay sachs so common? answer

12.    What genetic disease was carried by queen Victoria and some of her descendants? answer

13.    Explain why dominant genetic diseases are generally not too severe. answer  Why is Huntington’s an exception? answer

14.    How is PKU treated? answer

15.    List several possible sex chromosome combinations for human females. List several for males. answer