BIOLOGY 1A03 Lecture Notes - Lecture 12: Point Mutation, Anemia, Sickle-Cell Disease

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BIOLOGY 1A03 Full Course Notes

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4. 1. 1 - state that eukaryote chromosomes are made of. Chromosomes are composed of two daughter chromatids which are joined at the centromere. Chromosomes are mainly comprised of dna and histone proteins. Gene - a gene is a heritable factor that controls a specific characteristic. Allele - an allele is a specific form of a gene, differing for other alleles by one or a few bases only. They occupy the same gene locus as the other alleles on the gene. Genome - the whole of the genetic information of an organism. A gene mutation is a change in the base sequence of an allele. This may produce a different amino acid sequence in the protein translated, which may not be beneficial. A substance that causes mutation is called a mutagen, including radiation and chemicals. Deletion is when one of the bases is removed, changing the whole gene. Insertion involves the addition of a base, which also changes the whole gene.

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Ploidy refers to the number of complete sets of chromosomes (genes) present in a cell. The number of chromosomes in a complete set is a fixed characteristic of a species. Humans are diploid with two sets of 23 chromosomes. Fruit flies are diploid with two sets of 4 chromosomes. Sexually reproducing organisms are diploid, each somatic cell of an organism has two complete sets ("di" is a prefix indicating 2.). To complete a life cycle and reproduce new members of a species, mating is required. Mating brings a donation from a male and a donation from a female together. However, if the male and female cells remain diploid, the fertilization will result in a tetraploid zygote. In general, these are not viable. A mechanism is needed to form special haploid cells, gametes. The diploid set is split precisely into two complete haploid sets. That mechanism is meiosis.

The complete set of chromosomes of a species is also the complete set of genes of a species, the genome. (Yes, there is a minor contribution from mitochondria and chloroplasts. Inheritance of this information is "cytoplasmic".)

Please answer the following questions:

1. How many chromosomes in a brain cell of a fruit fly? How many chromosomes are in a liver cell of a human? Explain both answers.

2. How many chromosomes are in a fruit fly unfertilized egg? How many chromosomes are in a human egg? Explain both answers.

3. Why is meiosis necessary for sexually reproducing organisms? How many chromosomes are in a human zygote? Relate the two answers.

4. What is a gene allele? Suppose there is a gene called "bingo" and it is present once in a complete haploid set. How many alleles of "bingo" does a diploid individual have? How many copies or versions of the gene "bingo" are present in a diploid individual?

5. Modern DNA sequencing clearly identifies alleles by showing the different DNA sequence of each allele. These alleles may be termed structural alleles (I coined the term for this problem.). Classical genetics only dealt with phenotypes or visible traits. As a result, alleles of genes were identified by functionality, usually normal or non-functional. Using your knowledge of gene structure and gene expression, postulate a relationship between structural alleles and functional alleles. (include relative amounts; more, less, or equal).

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

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QUESTION 10

If you can drink milk as an adult, it means that you have inherited a mutation in the promoter of your lactase gene (the gene that encodes the enzyme you need to break down lactose). Predict the effect of this mutation:

		The mutation changes the number of domains in the enzyme, which makes it work more efficiently
		The mutation changes the amino acid sequence of the lactase protein
		The mutation increases the number of copies of the lactase gene that will be found in your genome
		The mutation changes whether the lactase sequence is found in an intron or exon
		The mutation affects the expression of the lactase gene

1.2 points

QUESTION 11

A competitive inhibitor is decreasing the activity of an enzyme. Predict the effect of adding more substrate to the reaction.

		The substrate will increase the reaction rate by binding to the allosteric site
		The substrate will increase the reaction rate by competing with the inhibitor for the active site
		The reaction rate will not change unless the inhibitor can be removed
		The enzyme adjusts its shape so that the substrate, but NOT the competitive inhibitor, can bind
		The substrate will bind to the competitive inhibitor and block its ability to bind to the enzyme

1.2 points

QUESTION 12

What determines where in the genome a transcription regulator will bind?

		Transcription regulators bind to the 5' UTR region of a gene
		Regulators bind via complementary base-pairing to certain DNA molecules
		Covalent bonds form between the transcription regulator and the atoms of the DNA backbone
		Every eukaryotic gene has a different transcription regulator that will bind to the 5' end of the gene
		Transcription regulators bind to specific DNA sequences via multiple weak non-covalent interactions

1.2 points

QUESTION 13

What is the basic premise of cell theory?

		DNA -> RNA -> protein
		All cells arise from pre-existing cells
		DNA provides the complete instructions to create a cell
		The identity of a cell is determined through gene expression patterns
		All cells contain the same four basic macromolecules

1.2 points

QUESTION 14

What is the benefit of using BOTH the lac activator and the lac repressor to control gene expression?

		Using both an activator and repressor enables cells to more accurately determine the amount of lactose available in the environment
		Enzymes to digest lactose are only made when energy is low and lactose is available
		The activator can override the inhibition of the lac operon by the repressor
		The repressor can control the enhancer, while the activator can control the promoter
		When neither the lac activator or repressor is present, expression of the lac operon is too high

1.2 points

QUESTION 15

What is the histone code used for?

		Phosphorylation and acetylation of DNA affect its ability to be compacted
		Changes to the sequence of DNA change whether DNA will wrap around histone proteins
		Covalent modifications of histones affect the ability of the transcription initiation complex to form
		Histones provide the codon sequences needed for translation to occur
		The histone code affects which amino acids will get added to a polypeptide

BIOLOGY 1A03 Lecture Notes - Lecture 12: Point Mutation, Anemia, Sickle-Cell Disease

BIOLOGY 1A03 Full Course Notes

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