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Questions and Answers
A child is born with weak muscle tone, intellectual disability, unusual skin pigmentation, and distinctive facial features. Which type of chromosomal mutation is most likely associated with these symptoms, based on the provided information?
A child is born with weak muscle tone, intellectual disability, unusual skin pigmentation, and distinctive facial features. Which type of chromosomal mutation is most likely associated with these symptoms, based on the provided information?
- Duplication
- Inversion
- Deletion (correct)
- Insertion
A patient is diagnosed with a genetic disorder where their blood does not clot properly. Which specific type of chromosomal mutation is indicated as a potential cause of this condition?
A patient is diagnosed with a genetic disorder where their blood does not clot properly. Which specific type of chromosomal mutation is indicated as a potential cause of this condition?
- Deletion on chromosome 5
- Inversion on the X Chromosome (correct)
- Insertion of extra nucleotides
- Trisomy X
Infants diagnosed with Cri-du-chat Syndrome typically exhibit a distinctive high-pitched cry. Which chromosomal abnormality is directly responsible for this syndrome?
Infants diagnosed with Cri-du-chat Syndrome typically exhibit a distinctive high-pitched cry. Which chromosomal abnormality is directly responsible for this syndrome?
- Missing piece of chromosome 5. (correct)
- Insertion of extra nucleotide pairs.
- Inversion of a segment of DNA.
- Presence of an extra X chromosome.
Beta thalassemia is associated with the body's inability to produce hemoglobin normally. Which type of chromosomal mutation is indicated as the cause of Beta thalassemia?
Beta thalassemia is associated with the body's inability to produce hemoglobin normally. Which type of chromosomal mutation is indicated as the cause of Beta thalassemia?
Which of the following characteristics is associated with Trisomy X Syndrome?
Which of the following characteristics is associated with Trisomy X Syndrome?
An individual with XYY Syndrome is likely to experience which of the following difficulties?
An individual with XYY Syndrome is likely to experience which of the following difficulties?
How does genetic engineering apply recombinant DNA technology to modify organisms?
How does genetic engineering apply recombinant DNA technology to modify organisms?
In the context of mutation effects, what is an example of a positive outcome resulting from genetic variation?
In the context of mutation effects, what is an example of a positive outcome resulting from genetic variation?
What is the primary function of DNA?
What is the primary function of DNA?
In the central dogma of molecular biology, which of the following correctly describes the flow of genetic information?
In the central dogma of molecular biology, which of the following correctly describes the flow of genetic information?
During DNA replication, which enzyme is responsible for unwinding the DNA double helix?
During DNA replication, which enzyme is responsible for unwinding the DNA double helix?
What is the role of ligase in DNA replication?
What is the role of ligase in DNA replication?
Which type of RNA carries the coding sequence for protein synthesis to the ribosome?
Which type of RNA carries the coding sequence for protein synthesis to the ribosome?
During transcription, what enzyme is responsible for unzipping the DNA and synthesizing mRNA?
During transcription, what enzyme is responsible for unzipping the DNA and synthesizing mRNA?
What is a key structural difference between DNA and RNA?
What is a key structural difference between DNA and RNA?
If a strand of DNA has the sequence 5'-G-C-T-A-T-G-3', what would be the corresponding sequence on the mRNA transcript?
If a strand of DNA has the sequence 5'-G-C-T-A-T-G-3', what would be the corresponding sequence on the mRNA transcript?
During translation, what role does tRNA primarily fulfill?
During translation, what role does tRNA primarily fulfill?
What is the direct consequence of a frameshift mutation in a gene?
What is the direct consequence of a frameshift mutation in a gene?
If a DNA coding strand has the sequence ATG, what would be the corresponding mRNA codon and the amino acid it codes for?
If a DNA coding strand has the sequence ATG, what would be the corresponding mRNA codon and the amino acid it codes for?
A scientist is analyzing a karyotype and observes that chromosome 12 has an extra segment. Which condition is most likely associated with this observation?
A scientist is analyzing a karyotype and observes that chromosome 12 has an extra segment. Which condition is most likely associated with this observation?
A mutation occurs in a somatic cell of an organism. What is the most likely outcome of this mutation?
A mutation occurs in a somatic cell of an organism. What is the most likely outcome of this mutation?
In the process of translation, what is the role of peptidyl transferase?
In the process of translation, what is the role of peptidyl transferase?
A geneticist is studying a new disease and discovers that it is caused by a point mutation. What is the most specific characteristic of a point mutation?
A geneticist is studying a new disease and discovers that it is caused by a point mutation. What is the most specific characteristic of a point mutation?
During karyotyping, what information can be directly obtained?
During karyotyping, what information can be directly obtained?
If a DNA sequence is ATC, what would be the corresponding RNA sequence synthesized during transcription?
If a DNA sequence is ATC, what would be the corresponding RNA sequence synthesized during transcription?
A mutation in a gene alters a single nucleotide base pair within the coding region. Which of the following outcomes is LEAST likely?
A mutation in a gene alters a single nucleotide base pair within the coding region. Which of the following outcomes is LEAST likely?
Which of the following cellular components is directly responsible for translating mRNA into a protein?
Which of the following cellular components is directly responsible for translating mRNA into a protein?
If a protein's function is to bind a specific hormone, a mutation that drastically changes the protein's tertiary structure is MOST likely to result in:
If a protein's function is to bind a specific hormone, a mutation that drastically changes the protein's tertiary structure is MOST likely to result in:
A scientist is studying a newly discovered genetic disorder. They observe that individuals with the disorder produce a protein that is twice as long as the normal protein. Which type of mutation is MOST likely responsible for this?
A scientist is studying a newly discovered genetic disorder. They observe that individuals with the disorder produce a protein that is twice as long as the normal protein. Which type of mutation is MOST likely responsible for this?
During DNA replication, an error occurs where a guanine (G) base is inserted instead of an adenine (A) base. If this error is NOT corrected by DNA repair mechanisms, what is the MOST likely outcome?
During DNA replication, an error occurs where a guanine (G) base is inserted instead of an adenine (A) base. If this error is NOT corrected by DNA repair mechanisms, what is the MOST likely outcome?
Eukaryotic chromosomes consist of 22 pairs of autosomes and 1 pair of sex chromosomes. If a female has a mutation on one of her X chromosomes, what is the probability that her daughter will also inherit this mutation, assuming the father does not carry the mutation on his X chromosome?
Eukaryotic chromosomes consist of 22 pairs of autosomes and 1 pair of sex chromosomes. If a female has a mutation on one of her X chromosomes, what is the probability that her daughter will also inherit this mutation, assuming the father does not carry the mutation on his X chromosome?
A certain protein requires the addition of a specific lipid molecule to become fully active. A mutation occurs that prevents this lipid from attaching. Which level of protein structure is MOST directly affected by this mutation?
A certain protein requires the addition of a specific lipid molecule to become fully active. A mutation occurs that prevents this lipid from attaching. Which level of protein structure is MOST directly affected by this mutation?
Flashcards
Chromosomes
Chromosomes
Thread-like structures made of coiled DNA, found in the nucleus. Humans have 23 pairs.
DNA (Deoxyribonucleic Acid)
DNA (Deoxyribonucleic Acid)
The genetic material containing instructions for development, survival, and reproduction.
Gene
Gene
A sequence of DNA that codes for a specific protein or trait.
Proteins
Proteins
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Nucleic Acids
Nucleic Acids
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Nucleotide
Nucleotide
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RNA (Ribonucleic Acid)
RNA (Ribonucleic Acid)
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Protein Synthesis
Protein Synthesis
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DNA Function
DNA Function
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RNA Function
RNA Function
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DNA Structure
DNA Structure
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RNA Structure
RNA Structure
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Central Dogma
Central Dogma
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DNA Replication
DNA Replication
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RNA Types
RNA Types
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Transcription
Transcription
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Ribosome
Ribosome
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Codon
Codon
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Start Codon
Start Codon
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Stop Codon
Stop Codon
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Karyotyping
Karyotyping
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Mutations
Mutations
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Hereditary Mutation
Hereditary Mutation
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Duplication (Mutation)
Duplication (Mutation)
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Chromosomal Mutation Syndrome
Chromosomal Mutation Syndrome
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Inversion (chromosomal)
Inversion (chromosomal)
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Hemophilia
Hemophilia
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Deletion (chromosomal)
Deletion (chromosomal)
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Cri-du-chat Syndrome
Cri-du-chat Syndrome
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Insertion (chromosomal)
Insertion (chromosomal)
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Beta Thalassemia
Beta Thalassemia
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Genetic Engineering
Genetic Engineering
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Study Notes
Scope and Sequence
- Topics include protein synthesis, mutation, human endocrine system, reproductive system hormones, feedback mechanisms, homeostasis, evolution, adaptation, and survival.
Protein Synthesis
- Protein formation relies on DNA information.
Mutations
- Mutations can alter a protein's structure and function
Nucleus Zoom In
- Chromosomes are coiled DNA thread-like structures.
- Humans have 23 pairs of chromosomes.
- 22 pairs are autosomes, and 1 pair are sex chromosomes determining sex.
- Females have XX chromosomes, while males have XY.
- DNA is the genetic material.
- Genes comprise sequences of DNA.
- Proteins repair/build tissues, enable metabolic reactions, and coordinate bodily functions.
Nucleic Acids
- Nucleic acids are natural compounds that carry the primary information in cells.
- A nucleotide is the basic building block of nucleic acids.
- DNA and RNA are nucleotide polymers.
DNA vs RNA
- DNA (Deoxyribonucleic Acid) is organisms’ genetic material.
- DNA contains the instructions for an organism to develop, survive, and reproduce.
- RNA (Ribonucleic Acid) carries genetic information translated by ribosomes into proteins for cellular processes.
DNA and RNA Comparison
- DNA functions in long-term storage of genetic information.
- RNA transfers genetic information in organisms.
- DNA has a double helix structure.
- RNA has a helix structure.
- DNA resides inside the nucleus.
- RNA is located inside the nucleus and in ribosomes.
- DNA has Adenine, Thymine, Guanine, and Cytosine bases.
- RNA has Adenine, Uracil, Guanine and Cytosine bases.
- DNA is self-replicating.
- RNA is synthesized from DNA as needed.
Central Dogma of Molecular Biology
- Explains how genetic information flows from DNA to RNA to create a functional protein product.
Central Dogma Processes
- DNA Replication – DNA – DNA
- Transcription – DNA – RNA
- Translation – RNA – Protein
Proteins Makeup and Types
- Proteins consist of amino acids (20 variations) linked by peptide bonds to form a polypeptide chain.
- Fibrous proteins are elongated for muscle, bone, and connective tissues.
- Globular proteins have a spherical shape for enzymes, antibodies, and hemoglobin.
- Digestive enzymes like amylase, lipase, pepsin, and trypsin help digest by catabolizing nutrients into monomers.
- Transport proteins like hemoglobin and albumin carry substances in the blood or lymph.
- Structural proteins such as actin, tubulin, and keratin construct structures like the cytoskeleton.
- Hormones like insulin and thyroxine coordinate bodily systems.
- Defense proteins like immunoglobulins protect against foreign pathogens.
- Contractile proteins such as actin and myosin effect muscle contraction.
- Storage proteins such as legume proteins and egg whites provide early embryo nourishment.
DNA Replication
- DNA splits into separated strands.
- Enzyme helicase unzips to expose the bases
- Unzipped areas lead the process.
- Primase helps attach nucleotides.
- DNA polymerase builds nitrogenous bases for a new strand.
- Ligase glues bases together to form a bond.
- The DNA coils again, replication stops via a fork point.
RNA Types & Function
- Messenger RNA (mRNA) carries protein synthesis coding and are called transcripts.
- Ribosomal RNA (rRNA) forms the core of ribosomes where protein synthesis takes place.
- Transfer RNA (tRNA) carries amino acids to ribosomes during protein synthesis.
Transcription: Step 1
- Sections of DNA splits.
- RNA Polymerase unzips the section of DNA to expose the bases
- One new strand of DNA is copied
- The strand acts as a template for mRNA
- mRNA exits the nucleus and goes to location for ribosomes
Translation Step: 2
- mRNA goes to ribosomes.
- Ribosomes attach and interpret codon.
- AUG is the start codon.
- UAG, UGA, and UAA are the stop codons.
- tRNA delivers amino acids.
- Peptidyl transferase is the enzyme and gluer of the amino acid to form a chain formation
- 3 nucleotide bases = 1 codon/amino acid
Chromosomes Numbers
- Humans have 46 chromosomes
- Half come from the mother (egg cell)
- Half come from the father (sperm cell)
- There are 23 pairs total chromosomes
- 22 pairs are autosomes
- 1 pair is a sex chromosome
- XX indicates female sex
- XY indicates male sex
Karyotyping
- Chromosome analysis through karyotyping assesses the structure and number to detect abnormalities.
- Chorionic Villus Sampling (CVS) can be performed at 10-13 weeks of pregnancy.
Mutations Definition
- Changes or alterations in the DNA sequence.
- They manifest in physical characteristics.
Mutation Types
- Hereditary/Germline mutations are inherited from parents, like color blindness.
- Acquired/Somatic mutations occur due to environment/lifestyle, chemical exposure, radiation, disease, or division errors.
Mutation Causes
- Radiation(UV sunlight, X-rays)
- Chemicals (carcinogens, processed foods, cosmetics, cleaners)
- Infectious agents (viruses, bacteria).
Chromosomal Mutations from Divisions
- Point mutation changes a single nucleotide
- Frameshift mutation adds/deletes nucleotides causing a reading frame shift.
Duplication Mutations
- An extra copy of a gene is repeated.
- Pallister-Killian Syndrome:
- Extra chromosome 12 material
- Characterized by weak muscle tone, distinctive face, sparse hair, unusual skin coloring(pigmentation), other birth defects.
Inversion Mutations
- A segment is broken off and inverted.
- Hemophilia is a genetic disorder where blood does not clot properly.
- Hemophilia inverts the X chromosome in women.
Deletion Mutations
- A segment of the gene is lost
- Cri-du-chat Syndrome condition results from missing chromosome 5.
- Infants with the condition have a high-pitched cry, like that of a cat.
Insertion Mutations
- Extra pairs are inserted into a new place within the the DNA sequence, which alters whole structure.
- Beta thalassemia insertion is a blood disorder where the body doesn't make enough hemoglobin.
Chromosomal Mutations Syndromes
- Trisomy X Syndrome: Characterized by delayed motor development, delayed speed, low IQ and abdominal pain.
- Klinefelter Syndrome: Characterized by some female distinction.
- XYY Syndrome: Characterized by problems with spoken words, coordination, muscles/hand tremors, and behavior.
Effects of Mutations
- Negative: Genetic Disorders (Cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria, color-blindness, Cancer, and Leukemia)
- Positive: Trichromatic Vision - Allows us to discriminate among three colors red, blue, and green) and Increased bone density
Genetic Engineering
- Modern biotechnology enables GM crops and organisms.
- Researchers can transplant genes between species.
- Recombinant DNA occurs with DNA from combining two different species are connected.
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