Name:
Genetics Unit Review
Genetic Disorders
1. Describe the four main types of genetic disorders.
2. Research the different genetic disorders listed below and indicate which type of genetic disorder
they are.
Disorder
Category of Genetic Disorder
Brief Description
Hemophilia
Cystic Fibrosis
Huntington’s Disease
Alzheimer’s Disease
Trisomy 18
Genetic Testing
5. Describe how preimplantation genetic diagnosis is performed.
Maternal and Child Health
6. Compare amniocentesis and chorionic villus sampling (CVS) in terms of the: (1) procedure, (2) risks
associated with the testing, and (3) time performed during pregnancy.
(1)
(2)
(3)
PCR and Gel Electrophoresis
7. Describe the overall goal of PCR. Describe the purpose of the three stages of PCR. Make sure to
explain why each stage requires a different temperature.
Match the components of PCR to their functions:
______8. Taq Polymerase
______9. Primers
______10. dNTPs
______11. Buffer
a. designed to correspond to the start and end of the target DNA being
amplified
b. a solution used to incubate the reaction components
c. free deoxyribonucleotides needed for extension
d. a thermostable enzyme used to extend the DNA
Match the below steps of genetic testing to their descriptions:
______12. Isolating DNA
a. polymerase chain reaction
______13. Amplifying DNA
b. separation of DNA fragments based on size
______14. Restriction Analysis
c. recognition of SNPs and cutting of DNA
______15. Gel Electrophoresis
d. extraction of cells
16. Describe how gel electrophoresis works. Be sure to include the words DNA, positive, negative,
agarose, buffer, size, small, and large in your description.
17. The ability to dance is determined by a SNP that can be detected using a restriction enzyme. The
enzyme is called JazzII, and it identifies the following sequence: AATT. It makes a blunt cut in the middle
of the sequence as seen below:
AA TT
TT AA
a. Review the two restriction sequences below and make any necessary cuts that would occur after the
addition of JazzII:
ATGGCAATTGGCC
ATGGCACTTGGCC
TACCGTTAACCGG
TACCGTGAACCGG
Dancer (DD)
No Rhythm (dd)
b. Interpret the electrophoresis gel and fill-in the
blanks in below:
Gel Electrophoresis Results after being treated with JazzII
Lane 1
Lane 2
Lane 3
Lane 1
Represents:_________________________________
Lane 2
Genotype:________________
Phenotype:__________________________________
Lane 3
Genotype:________________
Phenotype:_________________________________
Maternal and Child Health
18. Describe what an ultrasound is and 3 things that doctors/nurses can determine with an ultrasound
about the baby that they could not determine otherwise.
Description:
(1)
(2)
(3)