Name: ________________________________

Date: ____________________Period: ______

Unit 2 MI: How to Screen What is in Your Genes Test Review Guide: 6.25 pts EC on Summative—Due Wednesday 12.9.15

2.1: Genetic Testing and Screening1. What are the four classes/types of genetic disorder? How is each type inherited? What is an examle of each type?

2. Identify the following genotypes as either heterozygous, homozygous dominant, or homozygous recessive:Bb ____________________ dd _______________________ CC ______________________

3. Give the phenotype of the individuals with each genotype:

Hh ____________________ DD ____________________

bb ____________________ Rr _____________________

4. Give all the genotypes of people that express the phenotype:

Black hair _____________________ Square face ____________________ Dimples _______________________

5. Separated eyebrows (T) are dominant to connected eyebrows (t). A male who is homozygous dominant mates with a female who is heterozygous.

The woman gives birth to a child with connected eyebrows. The man immediately files for divorce because he claims the child can’t be his. Is he correct? EXPLAIN

6. What type/class of genetic disorder does this person have? __________________________

What is the person’s sex/gender? __________________________

What is the correct karyotype nomenclature for this person? _____________

7. Complete the pedigree with the correct genotypes. How is this disorder inherited? What does that mean?

8. What are the steps of PCR? What happens during each step? What temperature

This review guide does not review every concept on your test!

Trait Dominant Allele Recessive AlleleHairline Widow’s Peak (D) Straight (d)Dimples Has dimples (H) No dimples (h)

Hair Color Black (B) Blonde (b)Face Shape Round (R) Square (r)

9. What tests (and in what order) should be conducted to determine a patient’s single nucleotide polymorphisms (SNPs)?

10. The ability to dance is determined by a SNP that can be detected using a restriction enzyme. The enzyme is called CoerII, and it identifies the following sequence: AATT. It makes a blunt cut between the A and T, AA I TT. Review the two restriction sequences below and make any necessary cuts that would occur after the addition of CoerII. *Not all of the gene is copied below

ATGGCAATTGGCC ATGGCACTTGGCC What is the phenotype of the person in lane 2?TACCGTTAACCGG TACCGTGAACCGGDancer (D) No Rhythm (d) What is the genotype of the person in lane 3?

How many base pairs is the gene that determines your dancing ability ?

11. What are two medical interventions that exist regarding pregnancy? Describe them.

12. Differentiate amniocentesis, CVS (chorionic villus sampling), and PGD (preimplantation genetic diagnosis).

13. What is nondisjunction? Why does it occur? What type of genetic disorder does it cause?

2.2: Our Genetic Future14. What is sex selection? How can you ‘ensure’ you have a female child?

15. What is the procedure for reproductive cloning?

16. Differentiate gene, reproductive, and therapeutic cloning.

17. What is gene therapy? How might gene therapy open the door to genetic enhancement?

18. How can a vector transfer DNA into human cells? What are the vectors we learned about?

19. You have a patient that has come to you for gene therapy. The gene that is faulty is 10,254 base pairs long and is activated within the cells of the nervous system.Viral Vector Vector A Vector B Vector C

Max base pairs 8000 5000 20,000Properties Will integrate into host genome

Will not cause an immune response

May disrupt other genes when integrating

Integrates into a wide variety of cells in the body.

Will not disrupt host genome during integration.

Will not cause an immune response.

Integrates specifically into the cells of the nervous system.Will not disrupt other genes

when integrating.Can cause an immune response

Which vector would be the worst choice for gene therapy? Why?

Which vector would be the best choice for gene therapy? Why?

Unit 2 MI: How to Screen What is in Your Genes Test Study Guide—Test Thursday December 10 th , 2015 (36 MC, 4 SA) What is genetic testing? What is the role of a genetic counselor? (1 MC) What are the four types/classes of genetic disorders? How is each type inherited? What are examples of each? (4 MC, SA) What is a karyotype? What can be learned by examining a karyotype? (1 MC) What is genotype? What is phenotype? What is homozygous recessive/dominant and heterozygous? (1 MC) What is a pedigree? How do you read and create a pedigree? Why are they used? (1 MC, SA) Why are Punnett Squares useful? How do you read them and determine genotypic probabilities? (2 MC) What is the goal of PCR? What are the steps involved in PCR? (1 MC) How is DNA extracted? What charge does DNA have? What is supernatant? (1 MC) What are restriction enzymes? How do they work? (2 MC) How is gel electrophoresis performed? Which bands are longer? Where are bands located? How much DNA is present?

How do you read a gel to learn genotype and phenotype? Why are DNA standards used in gel electrophoresis? (4 MC, SA) What are the stages of development from fertilization to birth? (1 MC) What are common medical interventions used during pregnancy? (1 MC) What is amniocentesis? What is chorionic villus sampling (CVS)? What are the advantages/disadvantages of each? (1 MC) What is nondisjunction? How does nondisjunction occur? Nondisjunction is most common amongst whom? (1 MC) What is in vitro fertilization (IVF)? How is it performed? (1 MC) What is preimplantation genetic diagnosis (PGD)? How is it performed? How does it relate to ‘designer babies’? (2 MC) What is gene cloning? Therapeutic? Reproductive? How is each cloning process performed? What are examples of each

process? When is each processed used? (4 MC, SA) What is gene therapy? What are the advantages/disadvantages of gene therapy? When should it be used? (3 MC)

What is a vector? What are the six vectors used in gene therapy? When is each one used? (4 MC, SA)*Time will be a limiting factor on the test, you need to be able to solve problems quickly – or move on and then come back*