BIOS10162 Lecture Notes - Lecture 15: Missense Mutation, Sickle-Cell Disease, Nonsense Mutation

33 views7 pages

amethystfrog709

31 Aug 2016

School

Department

Biological Sciences

Course

BIOS10162

Professor

Mary Ann Mc Dowell

For unlimited access to Class Notes, a Class+ subscription is required.

Document Summary

Knowledge of a mutation abnormal protein produced by mutation drug targeted to that protein. A change in the nucleotide sequence of dna; can be passed to other cells and organisms. Occur in somatic cells and passed on during mitosis. Occur in cells that give rise to gametes. Occurs on a region of noncoding dna or occurs without causing a change in amino acid sequence (redundancy of genetic code) Usually result in genetic diversity not phenotypically expressed. May affect mrna stability or rate of translation affects abundance of protein phenotypically expressed. Gene is not expressed or expressed gene doesn"t produce functional protein. Conditional mutation: affects phenotype under restrictive conditions. Point mutations addition/subtraction/substitution of a single nucleotide/ base. Changes the mrna sequence may/may not affect protein. Reduce the functional efficiency of a protein or inactivate it. One or two nucleotides inserted or deleted causes frame shift for codon reading. Completely different aa sequence always nonfunctional protein.

Related Questions

QuestionGroup: #21 Gene expression 2

Assigned as

Homework

The direct end result of gene expression is which of the following?

Amino acids

Translation

Proteins

Carbohydrates

Unanswered

Submit

QuestionGroup: #22 Mutation

Assigned as

Homework

Which of the following is the ways in which nucleotide mutations lead to altered proteins?

One nucleotide is substituted by another nucleotide, which can cause an early stop codon to be incorporated into the amino acid sequence resulting in a truncated protein.

One nucleotide is replaced by another nucleotide, which can change an amino acid in the protein sequence

Nucleotides are inserted into a nucleotide sequence causing a frameshift in the sequence.

All three choices may cause mutations.

Unanswered

Submit

QuestionGroup: #23 Mutation 2

Assigned as

Homework

Mutations are the result of which of the following?

Change in the normal nucleotide sequence in the DNA directly resulting in different carbohydrates

Change in the normal nucleotide sequence in the DNA directly resulting in different proteins

Change in the order of transfer RNA to messenger RNA so that the transfer RNA take over the role of Messenger RNA

Primarily an alteration in the sequence of nucleotides in the abnormal proteins

Unanswered

Submit

QuestionGroup: #24 Cell division

Assigned as

Homework

There are two major kinds of cell division. Which of the following plays a major role in promoting genetic diversity?

Meiosis since it causes the cells to make more daughter cells than mitosis

Mitosis since it causes the cells to duplicate and eventually have mutations

Meiosis since it causes the DNA sequences to be separated into new patterns in the daughter cells.

Mitosis since it essential for the ovaries in humans to separate and duplicate

Unanswered

Submit

QuestionGroup: #25 Cancer

Assigned as

Homework

Genes that slow down or stop the cell cycle are called...

Apoptotic genes

Oncogenes

Restriction genes

Tumor suppressor genes

Unanswered

Submit

QuestionGroup: #26 Cancer2

Assigned as

Homework

The common theme in the development of all cancers is...

Mutation

Evolution

Infection

Syncopation

Unanswered

Submit

QuestionGroup: #27 Genetics

Assigned as

Homework

Punnett's square is which of the following?

Example of all possible combinations of alleles

Example of all possible combinations of chromosomes

Example of only certain combination of alleles since some will not be expressed.

Example of all possible combinations of DNA

Unanswered

Submit

QuestionGroup: #28 Embryo development

Assigned as

Homework

Which of the following is the end of the cleavage phase?

A fetus

Formation of a blastocyst

Implantation to the lining of the uterus

Fewer number of cells

Unanswered

Submit

QuestionGroup: #29 Development of organ system

Assigned as

Homework

For organs to be differentiated, which of the following is the first step?

Stem cells trigger the development of differentiated cells

Tissues assemble into organ systems such as blood

Tissue specific genes in stem cells are triggered

Differentiated cells form tissues

Unanswered

Submit

QuestionGroup: #30 Development and society

Assigned as

Homework

A pregnant mother ingests a chemical which her mother said would be great for the baby. When the baby was born, it had a large head and flippers for arms. What caused this phenotype?

The chemicals were teratogens which influenced oxidative phosphorylation causing the changes in the phenotype.

The chemicals influenced the expression of different stem cells.

There is no way to assume the chemicals caused the phenotype since we have no data on other mothers who took this medicine. It could have been purely by chance.

The chemicals were teratogens which caused the baby to show early signs of evolution.

2.)

a.) Are viruses that infect Archaea different from other bacterial viruses?

Yes, they do not have protein coats because of the extreme conditions where they live.

No, they consist of nucleic acid and protein just like other bacterial viruses.

Yes, the structure of archaeal viruses is always completely different from other bacterial viruses.

Yes, they have only DNA genomes.

b.) Of the following examples, which is not a common part of many viral life cycles?

The pox virus genome is replicated by DNA polymerase.

Adenoviruses attach to the cell and the nucleocapsid is taken up by the cell.

Pox viruses replicate in the cytoplasm of the cell.

Once an adenovirus virion is inside a cell, host RNA polymerases transcribe early genes

c.) Some viruses are associated with cancer. There are a variety of ways in which viruses may affect a cell in a way that may lead to cancer. Based on your knowledge of the life cycles of viruses and of molecular genetics, what is one way that this might happen?

Viral genetic material inserts into a host genome close to the termination sequence, far downstream of the promoter, and causes a silent mutation.

Viral genetic material inserts into a host genome in a repetitive noncoding region.

Viral genetic material inserts into a host genome, placing a promoter in a new location and turning on a gene that had previously been turned off.

Viral genetic material inserts into a host genome and causes a mutation in a promoter, turning off a gene that had previously been turned on.

d.) Which statement describes the difference between the normal neuron protein PrP^C and the pathogenic version PrP^Sc?

PrP^C is just a protein and the PrP^Sc is a protein with nucleic acid inside.

The PrP^C protein contains more beta sheets while the PrP^Sc protein contains more alpha helices.

The three-dimensional conformation is identical, but the amino acid sequence is different.

The amino acid sequence is identical, but the three-dimensional conformation is different.

1. In Humans, many types of cancers have been linked to?

A. Duplications
B. Inversions
C. translocations
D. deletions
E all of these

2. 5- bromoouracil is mutagenic because it is a(n)

a. base-modifying agent
b. base analog
c. intercalating agent
d. alkylating agent.

3.Ultraviolet radiation creates __________ in DNA

A. 5-methyl cytosine residues
B. breakages
C point mutations
D. mutational hot spots
E thymine dimers

4. The telomeres of chromosomes is composed of

A. heterochromatin
b. nucleosome
c. histone
d. achromatic

5. In eukaryotes, a replicon is

a. the distance between the origin of replication and thetermination of replication
b. a single chromosome
c. the entire genome
d. one DNA strand of a single chromosome

6. In a nonreciprocal interchomosomal translocation, a segment of achromosome is

a. exchanged with an identical segment on a differentchromosome
b. exchanged with an identical segment on a sister chromatid
c. transferred to a different chromosome without a reciprocalexchange of genetic material
d. transferred to a new location on the same chromosome without areciprocal exchange of genetic material

7. Somatic mutations are always.

a. spontaneous
b. carcinogenic
c. heritable
d. lethal
e. none of these

8. A woman with an XO genotype is

a. aneuploid
b. euploid
c. diploid
d. poluploid

9. Spontaneous mutations may occur as a result of

a. all of these
b. errors in DNA replication
c. transposition
d. none of these
e. normal cell biochemistry

10. In the semi conservative model of DNA replication, progenydouble helices consist of

a. one parental DNA strand and one new strand
b. one parental DNA strand and one new RNA strand
c. two new RNA strands
d. two parental DNA strands
e. two new DNA strands

11. A mutation in a gene may alter a cellâs

a. phenotype
b. genotype and phenotype
c. genotype

12. During replication, the direction of synthesis of new DNA fromthe leading strand is

a. both 5â to 3â and 3â to 5â
b. none of these
c. 3â to 5â
d. from left to right only
e. 5â to 3â only

13. A mutation that results in a switch from a purine-pyramidingbase pair to a pyramiding-purine base pair is a _________mutation.

a. neutral
b. transition
c. missense
d. transversion
e. nonsense

14. A trisomic human cell would contain how many chromosomes?

a. 45
b. 46,
c. 47.
d. 48

15. In a strand of DNA, a _____________ bond connects the phosphategroup of one nucleotide to the sugar of the adjacentnucleotide

a. hydrogen
b. ester
c. phosphodiester
d. phosphate
e. disulfide

16. Cri-du-chat syndrome is caused by which type of chromosomalmutation?

a. deletion
b. duplication
c. translocation
d. transversion
e. inversion

17. During replication, the role of DNA primase is to

a. add nucleotide to the growing DNA chain
b. synthesize a short chain for RNA
c. untwist the double helix at the origin of replication
d. relax the super coiling of the double helix
e. synthesize the primo some

18. A(n) ____________ inversion involves the Centro mere

a. chromocentric
b. paracentric
c. epicentric
d. percentric
e. concentric

19. Which of the following substances mutates DNA by intercalatingbetween adjacent base pairs?

a. methyl methane sulfonate
b. all of these
c. nitrous acid
d. 2-amino urine
e. acridine orange

20. A molecule of RNA is always

a. double stranded
b. helical
c. nonparallel
d. all of these
e. none of these

21. Mutagenesis of cells using radiation or a chemicalintercalating agent could be used to create __________ mutations ina region of DNA.

a. random
b. both random and site-specific
c. site-specific

22. In Griffithsâs tranformation experiments, the mice died whenthey were injected with

a. living, no virulent bacteria
b. living, virulent bacteria
c. heat-killed, no virulent bacteria
d. living, nonvirulent bacteria
e. both B and D

23. A monoploid human cells

a. shows only the excessive phenotype of all these genes
b. would be functionally impaired
c. is normal
d. would not survive

24. Gametes containing an abnormal number of chromosomes may occuras a result of

a. paracentric inversion
b. reciprocal translocation
c. disjunction of chromosomes
d. unequal crossing over

25. DNA may be altered as a result of _____________ events thatoccur normally in cells

a. depurination
b. deamination
c. depyrimidation
d. all of the above
e. none of the above

26. Which enzyme prevents DNA from tangling up as the replicationfork migrates during replication?

a. DNA polymerase I
b. DNA helicase
c. topoisonmerase
d. DNA polymerase III
e. DNA gyrase

27. Which of the following enzymes play an important role in DNAreplication?

a. DNA helicase
b. DNA ligase
c. DNA primase
d. all of them
e. DNA polymerase III

28. A mutation gene sustains a mutation that restores the originalphenotype, This is a

a. frame shift mutation
b. transversion
c. reversion
d. transition
e. forward mutation

29. A dicentric chromosome has two

a. telomeres
b. mutations
c. arms
d. centromeres

30. Which type of chromosomal mutation cannot revert to thewild-type state

a. duplication
b. deletion
c. translocation
d. both A and C
e. all of them

31. Translation of histone mRNAs occurs during which phase of theeukaryotic cell cycle?

a. M
b. G1
c. G2
d. S
e. all of these

32. After removal of the RNA primers, Okazaki fragments are joinedthrough a reaction that involves which enzyme?

a. RNA polymerase
b. DNA helicase
c. DNA polymerase
d. DNA primase
e. DNA ligase

33. Which of the following is required for the synthesis of DNAduring replication?

a. DNA polymerase
b. magnesium ions
c. all of them
d. template DNA
e. dNTPs

34. Most of the genome of an active cell consists of

a. heterochromatin
b. histochromatin
c. poluchromatin
d. euchromatin

35. In eukaryotes, DNA replication begins,

a. a single origin of replication on each chromosome
b. a single origin of replication on each chromosome
c. multiple origins of replication on each chromosome
d. all of the above
e. none of the above

36. A human cell contains 2 sets of 24 chromosomes is

a. euploid
b. haploid
c. polyploid
d. aneuploid

37. Pseudodominance occurs as a result of which type ofmutation?

a. translocation
b. duppolication
c. all of these
d. point mutation
e. deletion

38. The enzymatic activity of a telomerase is best described asa

a. none of these
b. polymerase
c. ligase
d. reverse transcriptase
e. topoisomerase

39. A Barr body is an example of

a. constitutive heterochromatin
b. facultative heterochromatin
c. facultative euchromatin
d. constitutive euchromatin

40. An addition or deletion of one or two base pairs in a genecauses a ____________ mutation

a. Transition
b. frameshift
c. nonsense
d. transversion
e. neutral

41. A heterozygous chromosomal inversion can be detected

a. by cytogenetic observation of loops in chromosomes
b. through genetic studies indicating a decrease in the frequencyof recombination between genes
c. by observing a decrease in the number of viable progenyfollowing genetic crosses
d. all of the above

42. The mutagen 5-bromouracil is an analog of which base?

a. adenine
b. threonine
c. thymine
d. cystosine
e. uracil

43. A mutation that changes a codon from one that represents anamino acid to one that signals a chain termination is a______________ mutation.

a. neutral
b. missense
c. frame shift
d. nonsense

44. A chromosomal mutation that results in an increase in theamount of DNA is a(n)

a. duplication
b. inversion
c. deletion
d. both A and C
e. all of the above

45. Prior to replication, the DNA double helix must be untwisted bywhich type of enzyme?

a. topoisomerase
b. ligase
c. polymerase
d. helicase
e. primase

46. In his transformation experiments, Griffiths used cultures ofwhich bacterium?

a. Sacchromyces cerevisiae
b. Escherichia coli
c. Streptococcus pneumoniae.
d. Bacillus cereus
e. Eneterococcus faecalis

47. A mutation changes a codon from a UCG to a UAG. This is a____________ mutation?

a. point
b. nonsense
c. silent
d. both A and B
e. all of the above

48. In eukaryotes, DNA replication

a. is initiated at several sites on chromosomes
b. occurs bidirectional
c. is semidiscontinuous
d. all of the above
e. none of the above

49. Which of the following bacteria are used in the Amestest?

a. Pseudomonas aeruginosa
b. Escherichia coli
c. Vibrio cholera
d. Salmonella typhimurium
e. Rickettsia rickettsii

50. Which of the following changes represents a missensemutation?

a. UGA (stop) to UAG (stop)
b. AAA (lysine) to AGA (arginine)
c. UUU (phenylalanine) to UAA (stop)
d. AUG (methionine) to UGA (stop)
e. AAA (lysine) to AAG (lysine)

BIOS10162 Lecture Notes - Lecture 15: Missense Mutation, Sickle-Cell Disease, Nonsense Mutation

Document Summary

Get access

Related textbook solutions

Molecular Cell Biology

Biology: Science for Life with Physiology

Biology

Concepts of Biology

Essentials of Biology

Related Documents

BIOS10162 Lecture Notes - Lecture 9: Allele Frequency, Genotype Frequency, Gene Pool

BIOS10162 Lecture Notes - Lecture 1: Trp Operon, Lac Operon, Tata Box

BSC 2010 Lecture Notes - Meiosis, Polyploid, Reading Frame

Related Questions