Advances in Molecular Genetics

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BSCS
Unit 3, Chapter 15
Advances in Molecular Genetics
1. What is the Human Genome Project? When did it begin and
when was it completed? By whom? Why is it called the “moon
shot?”
2. What did it establish?
3. What is a genome? What genomes have been sequenced?
4. How many nitrogen base pairs make up the human genome?
How many genes does the human genome have? (HINT: go to
http://www.ornl.gov/sci/techresources/Human_Genome/faq/c
ompgen.shtml
5. The diagram below shows a typical diagrammatic view of a
chromosome. What do the banded sections represent?
6. In the classroom is a poster depicting the diseases associated
with a specific chromosome out of the 24 different
chromosomes (1-22 autosomes and an X and Y chromosome).
Which chromosome has the most diseases associated with it?
7. What is the srY gene? What is its function in the human
body? In what gender offspring would you find this? Which are
of the chromosome is it on?
8. What was the first bacterial genome to be sequenced? The
first eukaryote?
9. Why would scientists choose prokaryotes to sequence their
genome?
10. Which organism (genus and species name) has contributed
to much of our knowledge of cell biology?
11. What was the first multicellular organism (genus and species
name) sequenced?
12. Homo sapiens has between 75-100 trillion cells. The
organism in question #11 has how many? Why does this make it
a unique organism to study?
13. What is functional genomics? How does it contribute to our
understanding our own genome?
14. Read the Focus On section on p. 396. How has automation
sped up our ability to sequence DNA?
15. What is the role of the cytochrome P450 gene?
16. Do genes act alone? Explain.
17. What is a microarray?
18. The picture below is a transgenic organism. What
technology achieved this?
19. The diagram below shows the steps of recombinant DNA
necessary for genetic engineering.
Why are bacterial plasmids used for this purpose?
20. Explain the use of restriction enzymes.
21. What is polymerase chain reaction (PCR)?
22. What are single nucleotide polymorphisms (SNP’s)?
23. What is RFLP analysis?
24. In what areas of the industrial sector and society are these
used?
25. What are mutations? What forms do they take?
26. In the diagram below notice the point mutations. What
effect would this have on the organism if it occurred in somatic
cells? What effect would this have on the offspring if it
occurred in sex cells?
26. Differentiate between a missense mutation and nonsense
mutation. Give examples of each (not the ones from the book)
27. What is a frameshift mutation?
28. What test is given to every child born in the US at birth?
Why? What is the nature of the disorder being tested?
29.Describe three different chromosome arrangements and in
the space below, draw representative samples of them.
30. What is the biggest danger in somatic cell mutations? How
can several different mutations cause the same genetic disease?
31. What is the process called when extra copies of specific
genes are made?
32. What is the germ cell line? How is this useful to gene
therapy?
33. The following diagram shows a simplistic view of gene
therapy.
What risks are there when inserting copies of normal human
gene into bacteria to form clones or in viruses to be introduced
into human cells?
34. Give a concise definition of a gene.
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