Download KEY UNIT TWO TEST – STUDY GUIDE Define primer. A short piece

KEY
UNIT TWO TEST – STUDY GUIDE
1. Define primer.
A short piece of DNA or RNA that is complementary to a section of template strand and acts as an
attachment and starting point for the synthesis strand during DNA replication
2. Define carrier screening
Indiscriminate examination of members of a population to detect heterozygotes for serious disorders
3. Define genome
The complement of an organism’s genes; an organisms genetic material
4. Define phenotype
The physical and physiological traits of an organism
5. Define genotype
The genetic makeup of an organism…Tt, tt, TT
6. Define karyotype
A display of the chromosome pairs of a cell arranged by size and shape
7. What is a restriction enzyme’s function?
A degradative enzyme that recognizes specific nucleotide sequences and cuts up DNA
8. Define DNA denaturation unwinding of DNA
9. Define PCR (including what does it stand for)? Polymerase Chain Reaction
A technique that involves copying short pieces of DNA and then making millions of copies in a short
10. Define SNP (including what does it stand for)? Single Nucleotide Polymorphism
One base-pair variation in the genome sequence
11. What are the three stages of a PCR cycle?
a. Include what happens in each stage and at what temperature each stage occurs.
12. Define single gene disorder
Single gene disorders are caused by changes or mutations that occur in the DNA sequence of one gene.
13. Define multifactorial disorder
Multifactorial disorders are caused by a combination of environmental factors and mutations in multiple
genes.
14. Define chromosomal disorder
Humans have 46 chromosomes in their body cells.
a. 44 autosomes
b. 2 sex chromosomes
Because chromosomes carry genetic information, problems arise when there are missing or extra copies
of genes, or breaks, deletions or rejoining of chromosomes.
15. Define mitochondrial disorder
Mitochondria, the organelles in your cells that convert energy, also contain DNA.
A mitochondrial disorder, a relatively rare type of genetic disorder is caused by mutations in nonchromosomal DNA of mitochondria.
Mitochondrial DNA is unique in that it is passed solely from mother to child
16. What does a genetic counselor do? (correlates to your presentations…)
Educate individuals, families, and communities about inheritance, testing, management, prevention,
resources and research in genetic counseling. Explain family history and the chance that a condition will
occur or recur. Counsel an individual or family to promote informed choices and adaptation to the risk or
condition.
17. Differentiate between amniocentesis and chorionic villus sampling.
a. Include when each is performed, what technique is used & the risks associated with.
Amniocenteisis-performed btwn 15th -20th weeks
performed by inserting a thin needle through your abdomen into your uterus (womb) and
withdrawing a small amount of amniotic fluid. Your body will make more fluid to replace the fluid
that is taken out.
CVS-performed btwn 10th-12th weeks
 performed by removing a small sample of the placenta (nourishment for the baby) from the
uterus. It is removed with either a catheter (a thin tube) or a needle (through abdomen or cervix).
18. What can a fetal ultrasound detect?
Fetal ultrasound is a test done during pregnancy that uses reflected sound waves. It produces a picture of
the baby (fetus), the organ that supports the fetus (placenta), and the liquid that surrounds the fetus
(amniotic fluid).
Fetal ultrasound images can help your health care provider evaluate your baby's growth and development
and determine how your pregnancy is progressing. In some cases, fetal ultrasound is used to evaluate
possible problems or help confirm a diagnosis.
The first fetal ultrasound is usually done during the first trimester to confirm and date the pregnancy. If
your pregnancy remains uncomplicated, the next ultrasound is typically offered during the second
trimester, when anatomic details are visible. If your baby's health needs to be monitored more closely,
additional ultrasounds might be recommended.
19. How many chromosomes does every somatic cell in a human contain?
20. What is the role of Taq polymerase in a PCR?
a. Include which stage it functions within and what it actually does.
Taq Polymerase is present in the Extension step of PCR, the final step.
Taq polymerase binds and extends a complementary DNA strand from each primer (adding
approximately 60 bases per second, using the free-floating nucleotides)
21. Why do we use Taq polymerase in a PCR?
Taq Polymearse is a DNA synthesis enzyme that can withstand the high temperatures of PCR…the first
step is denaturization of DNA which requires a high temp…
Diagnostic vs Screenings…Amniocentesis VS CVS
Go to your Genetic Disorders Notes (pg 5 in Lab Book)
PGD…what does it stand for… Preimplantation Genetic Diagnosis
In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is
transferred to the uterus
22. Define RFLP
23. Define gene therapy
24. Define vector
25. How many RFLPs would show up on a gel if a DNA sequence was cut four times with a restriction enzyme?
26. Define cloning
27. Define allele
28. Define supernatant
29. Differentiate between therapeutic cloning and reproductive cloning
30. Give an example of how therapeutic cloning could be applied.
31. Give an example of how reproductive cloning could be applied.