BIOL 100 Lecture Notes - Lecture 9: Missense Mutation, Nonsense Mutation, Silent Mutation

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29 Sep 2017

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The language of genes is universal among organisms. Human genes can be inserted into bacteria which can make beneficial proteins. The universality of the genetic code suggest suggests an early acquisition of genes in the past and common descent. A mutation is a change in the cell dna"s sequence or the change in the encoding of the genes. Mutation rate is low but it is natural. Example: a mutation in one gene can cause to develop legs on its" head. Mutations can lead to diseases like cystic fibrosis. Mutations in at least two genes can lead to variations in hair color. Point mutations are the most common mutations as point mutations are changes to one nucleotide base pair of a gene. There are two main types of point mutations: substitutions and insertions/deletions. A point mutation changes one or a few base pairs in a gene. A wildtype is an original nucleotide sequence.

Related Questions

1. An occurrence of a gene made larger by trinucleotide repeats is:

Allelic expansion

Nucleotide expansion

Translocation mutation

Transformation

2. a chemical that can damage and/or change DNA is called a/an:

Allele

Endonuclease

Vector

Mutagen

3. An occurrence when a section of a chromosome relocates itself to an entirely different (non-homologous) chromosome is called a/an:

Inversion mutation

Translocation mutation

Transformation mutation

Duplication mutation

4. The tandem repeat in the sequence GGGAAGGGAAGGGAAGGGAAGGGAAG is:

GGA

GGGAA

GGAAG

GGAAGGG

A disease characterized by abnormally shaped hemoglobin is called:

Cystic Fibrosis

Sickle Cell Anemia

Marfan Syndrome

Leukemia

5. A point mutation that causes a substitution of a stop codon with an amino acid and leads to the formation of a longer protein is a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

6. Addition or deletion of nucleotides in a DNA sequence is known as a:

Nonsense mutation

Missense mutation

Sense mutation

Frameshift mutation

7. The least severe type of chromosomal mutation is:

Point

Frameshift

Inversion

Translocation

8. Chemicals inserting themselves into DNA can cause a:

Missense mutation

Nonsense mutation

Sense mutation

Frameshift mutation

9. A genetic condition caused by allelic expansion is:

Familial hypercholesterolemia

Fragile X syndrome

Alkaptonuria

Galactosemia

10. Which of the following is most likely the original DNA strand if the mutated DNA strand is ATAGUUGATGUA ?

ATAGAAGATGAA

ATAGCCGATGCA

ATAGGGGATGGA

ATAGTTGATGTA

11. An unbalanced chromosomal mutation would include a/an:

duplication (insertion)

inversion

translocation

denaturation

12. Many translocation mutations are found to be involved with:

cancers

sickle cell anemia

Huntington disease

cystic fibrosis

13. A common repeat throughout the human genome that is approximately 300 bases in length is called a/an:

EcoRI repeat

Hind repeat

Exo repeat

Alu repeat

14. A balanced chromosomal mutation includes:

imprintation

denaturation

inversion

deletion

salmondinosaur263

QuestionGroup: #21 Gene expression 2

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

Amino acids

Translation

Proteins

Carbohydrates

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QuestionGroup: #22 Mutation

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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.

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QuestionGroup: #23 Mutation 2

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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

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QuestionGroup: #24 Cell division

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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

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QuestionGroup: #25 Cancer

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

Apoptotic genes

Oncogenes

Restriction genes

Tumor suppressor genes

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QuestionGroup: #26 Cancer2

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

Mutation

Evolution

Infection

Syncopation

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QuestionGroup: #27 Genetics

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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

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QuestionGroup: #28 Embryo development

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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

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QuestionGroup: #29 Development of organ system

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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

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QuestionGroup: #30 Development and society

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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.

On the Edge Selling Personalized Genetics

Several companies on the Internet sell genetic tests directly to consumers including 23andMe, Navigenics, decode Genetics, DNA Tribes, Genelex, ScientificMatch, Consumer Genetics, Salugen, DNAprint Genomics, Genova Diagnostics, Suracell, and many more. The companies ask customers to collect a sample of their genes with a cheek swab and send it to them for testing. Most test by putting the customerâs gene sample on a small flat âDNA microarray chipâ that already contains pieces of DNA matching known genes (or gene mutations). If one of the customerâs genes matches one of the pieces of DNA on the chip, it binds to the DNA fragment which creates a tiny fluorescent glow showing that the gene indicated by the DNA fragment is in the sample. A computer then analyzes the pattern of glowing spots on the chip and prints out a list of the genes (or gene mutations) in the customerâs sample. Scientists have discovered a few genes that are associated with specific diseases or personal characteristics. Studies found, for example, genes that are linked to cystic fibrosis, Tay Sachs disease, and Lou Gehrigâs disease, genes that increase the risk of certain breast, colon, and thyroid cancers, and genes associated with sensation seeking, eye color, obesity, and lactose intolerance. They also found that some genes are more often found in people whose ancestors came from certain regions of the world. The companies say that based on these studies and their own gene tests, they can give customers valuable personalized information (for a price, of course). One company, Sciona, (no longer operating) said on its website: âSciona is a leader in nutrigenomics, the science of personalizing your nutrition and lifestyle choices to match your genesâ; Sciona gave customers âa personalized preventative dietary regimeâ that was supposed to prevent the diseases their genes put them at risk for. Another site promises: âBased upon the . . . [genetic] analysis, Suracell recommends to each client a personalized regimen of nutraceuticals [vitamin supplements].â Another states: âDNA Tribes . . . uses genetic material . . . to measure your genetic connections to individual ethnic groups and major world regions.â Another company claims to do it all: âWith a simple saliva sample weâll help you gain insight into your traits, from baldness to muscle performance. Discover risk factors for 95 diseases. Know your predicted response to drugs, from blood thinners to coffee. And uncover your ancestral origins.â Critics claim, however, that with a few exceptions, most studies have shown only weak connections between genes and specific traits, disease risks, drug responses, nutritional or vitamin needs, or ancestral origins. Many studies that link specific genes to a disease are only preliminary and the full picture has not yet been worked out. Moreover, critics say, it is wrong to tell customers their genes put them at risk of a deadly disease without proper counseling, especially when the scientific studies are weak and many other environmental, demographic, and lifestyle factors determine the actual onset of a disease. Ordinary consumers, they conclude, are being sold a product that they do not have the expertise to interpret. But defenders of the tests say consumers have a right to know what genes they carry and what science has learned about those genes. The companies charge from $140 to test for two or three genes, up to $999 to test for a full suite of genes. Evaluate the ethics of selling gene tests directly to consumers like these companies are doing. What would each of the three theories of a businessâs duties to consumers say about what the companies are doing? Under what conditions do you think selling the tests would be ethically legitimate? Check out the video of GAO interviews of gene-test company salespeople at http://www.gao.gov/products/gao-10-847t .

Based on this issue evaluate the ethics of selling gene tests directly to consumers. Watch the video showing GAO interviews of the gene-test company salespeople and evaluate the ethics of the selling practices shown on the video. Answer the following questions:

1. What would the three theories of business's duties to consumers say about what the companies are doing?

2. Is it ever ethical for direct-to-consumer selling of these tests?

3. Should the government-on its own discretion-be able to use the DNA data in the databases to solve crimes and catch criminals?

http://www.gao.gov/products/GAO-10-847T

BIOL 100 Lecture Notes - Lecture 9: Missense Mutation, Nonsense Mutation, Silent Mutation

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