PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
1. Mutation is an intrinsic property of cellular metabolism
DNA. What can cause mutations? uv light exposure
ionizing radiation
chemical exposure
replication errors
2. Mutation is an intrinsic property of cell cycle checkpoint activation
DNA. How does the cell fix the DNA transcriptional program activation
damage? dna repair (direct reversal, base excision repair, nu-
cleotide excision repair, double strand break repair-ho-
mologous recombination and non-homologous end
joining)
3. What are genes? a segment of dna that encode proteins responsible for
a measurable trait
4. What is a tautomeric shift? missed nucleotide base pairing that results in a muta-
tion
5. What is variation? Caused by mutations and result in evolution
6. What is a substitution mutation? one nucleotide takes place of another
single nucleotide polymorphism (SNP)
7. what is an insertion and deletion Mutation that results in the addition or deletion of
mutation> nucleotides in the DNA sequence
INDELS
8. What is aneuploidy? Abnormal number of chromosomes.
9. What is inversion mutation? A segment of the chromosome breaks off, flips back-
ward, and reattaches
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
10. What is translocation mutation? part of a chromosome breaks off and attaches to an-
other chromosome
11. what is a nonsense mutation? When a stop codon is formed prematurely.
12. what is a silent mutation? alters a base but does not change the amino acid
13. what is a missense mutation? Point mutation in which a single nucleotide is changed,
resulting in a codon that codes for a different amino
acid.
14. indels (insertions and deletions) cause frameshift mutations, may alter protein function
15. SNP and INDElS give rise to dif- alleles
ferent versions of the same gene
known as what?
16. What is the result of combination variation
of different alleles?
17. metacentric chromosome centrally located centromere
18. submetacentric chromosome one arm is somewhat shorter than the other
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
19. acrocentric chromosome a chromosome with the centromere located very close
to one end
20. telocentric chromosome a chromosome in which the centromere is located at its
very end
21. Klinefelter Syndrome (XXY) an extra X chromosome causes physical abnormalities
- aneuploidy
22. Robertsonian translocation Translocation in which the long arms of two acrocen-
tric chromosomes become joined to a common cen-
tromere, resulting in a chromosome with two long arms
and usually another chromosome with two short arms.
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
23. unbalanced translocation a translocation in which a cell has too much genetic
material compared with a normal cell
24. Gene Amplification The selective synthesis of DNA, which results in multiple
copies of a single gene, thereby enhancing expression.
25. what kinds of mutations are herita- germline mutations
ble?
26. What are somatic mutations? mutations acquired by the vegetal cell. they cannot pass
down to the next generation but some of them can
cause tumors, called sporadic tumors.
27. What are germline mutations? Changes in egg or sperm cells that can be passed down
to the next generation and cause hereditary diseases.
28. what is mosaicism? Presence of genetically distinct cell lines in the same
individual
29. what is chimerism? The presence of two cell populations in a single indi-
vidual.
Rarely round but occurs in twins.
30. ~2 x 10^-8
Study online at https://quizlet.com/_hlnlvn
1. Mutation is an intrinsic property of cellular metabolism
DNA. What can cause mutations? uv light exposure
ionizing radiation
chemical exposure
replication errors
2. Mutation is an intrinsic property of cell cycle checkpoint activation
DNA. How does the cell fix the DNA transcriptional program activation
damage? dna repair (direct reversal, base excision repair, nu-
cleotide excision repair, double strand break repair-ho-
mologous recombination and non-homologous end
joining)
3. What are genes? a segment of dna that encode proteins responsible for
a measurable trait
4. What is a tautomeric shift? missed nucleotide base pairing that results in a muta-
tion
5. What is variation? Caused by mutations and result in evolution
6. What is a substitution mutation? one nucleotide takes place of another
single nucleotide polymorphism (SNP)
7. what is an insertion and deletion Mutation that results in the addition or deletion of
mutation> nucleotides in the DNA sequence
INDELS
8. What is aneuploidy? Abnormal number of chromosomes.
9. What is inversion mutation? A segment of the chromosome breaks off, flips back-
ward, and reattaches
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
10. What is translocation mutation? part of a chromosome breaks off and attaches to an-
other chromosome
11. what is a nonsense mutation? When a stop codon is formed prematurely.
12. what is a silent mutation? alters a base but does not change the amino acid
13. what is a missense mutation? Point mutation in which a single nucleotide is changed,
resulting in a codon that codes for a different amino
acid.
14. indels (insertions and deletions) cause frameshift mutations, may alter protein function
15. SNP and INDElS give rise to dif- alleles
ferent versions of the same gene
known as what?
16. What is the result of combination variation
of different alleles?
17. metacentric chromosome centrally located centromere
18. submetacentric chromosome one arm is somewhat shorter than the other
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
19. acrocentric chromosome a chromosome with the centromere located very close
to one end
20. telocentric chromosome a chromosome in which the centromere is located at its
very end
21. Klinefelter Syndrome (XXY) an extra X chromosome causes physical abnormalities
- aneuploidy
22. Robertsonian translocation Translocation in which the long arms of two acrocen-
tric chromosomes become joined to a common cen-
tromere, resulting in a chromosome with two long arms
and usually another chromosome with two short arms.
, PCOL 838 Exam 1
Study online at https://quizlet.com/_hlnlvn
23. unbalanced translocation a translocation in which a cell has too much genetic
material compared with a normal cell
24. Gene Amplification The selective synthesis of DNA, which results in multiple
copies of a single gene, thereby enhancing expression.
25. what kinds of mutations are herita- germline mutations
ble?
26. What are somatic mutations? mutations acquired by the vegetal cell. they cannot pass
down to the next generation but some of them can
cause tumors, called sporadic tumors.
27. What are germline mutations? Changes in egg or sperm cells that can be passed down
to the next generation and cause hereditary diseases.
28. what is mosaicism? Presence of genetically distinct cell lines in the same
individual
29. what is chimerism? The presence of two cell populations in a single indi-
vidual.
Rarely round but occurs in twins.
30. ~2 x 10^-8
