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Questions and Answers
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. The couple has a 50% chance of having an affected child.
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. The couple has a 50% chance of having an affected child.
False (B)
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. The disease is more likely to be expressed if a silent mutation occurs in the dominant allele.
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. The disease is more likely to be expressed if a silent mutation occurs in the dominant allele.
False (B)
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. If the child inherits one normal allele and one mutated allele, the mutation will be expressed due to genomic imprinting.
A 32-year-old woman presents for genetic counseling. She is a carrier for an autosomal recessive disorder, but her partner has tested negative for any known mutations associated with the disease. If the child inherits one normal allele and one mutated allele, the mutation will be expressed due to genomic imprinting.
False (B)
Which of the following best describes the primary function of histone proteins in the nucleus?
Which of the following best describes the primary function of histone proteins in the nucleus?
Which of the following correctly differentiates between meiosis I and meiosis II?
Which of the following correctly differentiates between meiosis I and meiosis II?
A scientist is studying the effects of a base-pair substitution in a gene that results in premature termination of translation. What is the most likely type of mutation responsible?
A scientist is studying the effects of a base-pair substitution in a gene that results in premature termination of translation. What is the most likely type of mutation responsible?
Which of the following best explains why frameshift mutations are typically more severe than point mutations?
Which of the following best explains why frameshift mutations are typically more severe than point mutations?
During DNA replication, which enzyme is responsible for proofreading the newly synthesized DNA strand?
During DNA replication, which enzyme is responsible for proofreading the newly synthesized DNA strand?
A patient with a genetic disorder has a single nucleotide substitution that results in the production of an abnormal hemoglobin protein. Which type of mutation does this describe?
A patient with a genetic disorder has a single nucleotide substitution that results in the production of an abnormal hemoglobin protein. Which type of mutation does this describe?
Which of the following is an exception to the central dogma of molecular biology?
Which of the following is an exception to the central dogma of molecular biology?
Gene therapy for a patient with a recessive genetic disorder typically aims to:
Gene therapy for a patient with a recessive genetic disorder typically aims to:
A laboratory technique is used to amplify a specific DNA sequence within a short period of time. Which enzyme is essential for this process?
A laboratory technique is used to amplify a specific DNA sequence within a short period of time. Which enzyme is essential for this process?
Which process results in genetically unique gametes during meiosis?
Which process results in genetically unique gametes during meiosis?
Which of the following statements is FALSE regarding transcription and translation? Translation involves converting RNA into DNA prior to protein synthesis.
Which of the following statements is FALSE regarding transcription and translation? Translation involves converting RNA into DNA prior to protein synthesis.
Which statement correctly differentiates between DNA replication and transcription?
Which statement correctly differentiates between DNA replication and transcription?
Which of the following correctly describes the structure of DNA?
Which of the following correctly describes the structure of DNA?
Which of the following mutations would NOT result in a frameshift?
Which of the following mutations would NOT result in a frameshift?
Which of the following best explains why nonsense mutations are typically more severe than silent mutations?
Which of the following best explains why nonsense mutations are typically more severe than silent mutations?
Which of the following statements correctly describes the difference between heterozygous and homozygous genotypes?
Which of the following statements correctly describes the difference between heterozygous and homozygous genotypes?
Which of the following differences between DNA and RNA is correct?
Which of the following differences between DNA and RNA is correct?
Which of the following processes occurs AFTER transcription in eukaryotic cells?
Which of the following processes occurs AFTER transcription in eukaryotic cells?
Which of the following describes a diploid cell?
Which of the following describes a diploid cell?
Which term describes the location of a gene on a chromosome?
Which term describes the location of a gene on a chromosome?
Which of the following best describes the process of reverse transcription?
Which of the following best describes the process of reverse transcription?
A child with adenosine deaminase deficiency (ADA) receives gene therapy. Which of the following best describes the goal of this therapy?
A child with adenosine deaminase deficiency (ADA) receives gene therapy. Which of the following best describes the goal of this therapy?
Which process during meiosis I contributes most to genetic diversity?
Which process during meiosis I contributes most to genetic diversity?
Which of the following statements about chromosomes is FALSE? Chromosomes are replicated during mitosis.
Which of the following statements about chromosomes is FALSE? Chromosomes are replicated during mitosis.
Which of the following statements correctly differentiates mitosis from meiosis?
Which of the following statements correctly differentiates mitosis from meiosis?
Which of the following describes the role of ribosomes in gene expression?
Which of the following describes the role of ribosomes in gene expression?
Which of the following mutations is most likely to result in sickle-cell anemia?
Which of the following mutations is most likely to result in sickle-cell anemia?
A geneticist uses PCR to diagnose an infectious disease. What is the primary advantage of PCR in this context?
A geneticist uses PCR to diagnose an infectious disease. What is the primary advantage of PCR in this context?
Which of the following best defines the term allele?
Which of the following best defines the term allele?
A scientist is studying the effect of a frameshift mutation in a gene responsible for a critical enzyme. Which of the following is the most likely outcome?
A scientist is studying the effect of a frameshift mutation in a gene responsible for a critical enzyme. Which of the following is the most likely outcome?
Which of the following statements correctly differentiates prophase of mitosis from prophase I of meiosis?
Which of the following statements correctly differentiates prophase of mitosis from prophase I of meiosis?
During DNA replication, what is the role of DNA polymerase?
During DNA replication, what is the role of DNA polymerase?
Which of the following genetic events can result in a trisomy?
Which of the following genetic events can result in a trisomy?
Which of the following is a characteristic feature of haploid cells?
Which of the following is a characteristic feature of haploid cells?
A mutation results in the addition of three nucleotides within a gene coding for an enzyme. What is the most likely outcome?
A mutation results in the addition of three nucleotides within a gene coding for an enzyme. What is the most likely outcome?
Which of the following best explains why gene therapy is typically targeted at somatic cells?
Which of the following best explains why gene therapy is typically targeted at somatic cells?
Which of the following occurs in both DNA replication and transcription?
Which of the following occurs in both DNA replication and transcription?
Which enzyme is responsible for forming the phosphodiester bonds that join Okazaki fragments on the lagging strandduring DNA replication?
Which enzyme is responsible for forming the phosphodiester bonds that join Okazaki fragments on the lagging strandduring DNA replication?
Which of the following mutations would most likely have the least effect on a protein's function?
Which of the following mutations would most likely have the least effect on a protein's function?
Which of the following correctly differentiates between point mutations and chromosomal mutations?
Which of the following correctly differentiates between point mutations and chromosomal mutations?
Which of the following correctly describes the process of DNA transcription?
Which of the following correctly describes the process of DNA transcription?
Which statement about chromosomal abnormalities is TRUE?
Which statement about chromosomal abnormalities is TRUE?
During meiosis I, what prevents the sister chromatids from separating?
During meiosis I, what prevents the sister chromatids from separating?
Which of the following statements about the central dogma of molecular biology is FALSE? Proteins can directly encode information back into DNA.
Which of the following statements about the central dogma of molecular biology is FALSE? Proteins can directly encode information back into DNA.
Which of the following processes occurs ONLY during meiosis?
Which of the following processes occurs ONLY during meiosis?
Which of the following describes the difference between mRNA and tRNA?
Which of the following describes the difference between mRNA and tRNA?
A patient with Down syndrome has an extra copy of chromosome 21. This condition is an example of:
A patient with Down syndrome has an extra copy of chromosome 21. This condition is an example of:
Flashcards
Autosomal Recessive
Autosomal Recessive
Both copies of a gene must be mutated for the disease to manifest.
Histone Proteins
Histone Proteins
Package DNA into nucleosomes and regulate gene expression.
Meiosis I
Meiosis I
Homologous chromosome separation and crossing over, creating genetic diversity.
Nonsense Mutation
Nonsense Mutation
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Frameshift Mutation
Frameshift Mutation
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DNA Polymerase
DNA Polymerase
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Missense Mutation
Missense Mutation
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Reverse Transcriptase
Reverse Transcriptase
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Gene Therapy
Gene Therapy
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Taq Polymerase
Taq Polymerase
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Independent Assortment
Independent Assortment
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Transcription vs. Translation
Transcription vs. Translation
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DNA replication vs transcription
DNA replication vs transcription
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DNA Structure
DNA Structure
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Frameshift Mutations
Frameshift Mutations
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Nonsense Mutation
Nonsense Mutation
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Heterozygous vs. Homozygous
Heterozygous vs. Homozygous
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DNA vs RNA
DNA vs RNA
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Splicing
Splicing
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Diploid Cell
Diploid Cell
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Locus
Locus
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Reverse Transcription
Reverse Transcription
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Gene Therapy
Gene Therapy
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Meiosis I
Meiosis I
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Interphase Process
Interphase Process
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Mitosis vs Meiosis
Mitosis vs Meiosis
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Ribosomes
Ribosomes
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Mutation
Mutation
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PCR
PCR
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Allele
Allele
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Study Notes
- Autosomal recessive disorders necessitate mutations in both gene copies for disease manifestation; carriers remain asymptomatic.
Histones
- Package DNA into nucleosomes, regulating gene expression within the nucleus.
Meiosis I vs. Meiosis II
- Meiosis I involves homologous chromosome separation and crossing over, promoting genetic diversity.
- Meiosis II resembles mitosis and separates sister chromatids.
Nonsense Mutations
- Introduce premature stop codons, potentially leading to nonfunctional, truncated proteins.
Frameshift mutations
- They lead to severe functional consequences by altering the mRNA reading frame and changing the amino acids.
DNA Polymerase
- Synthesizes new DNA strands and proofreads for accuracy during replication.
Missense Mutations
- They result in one amino acid being substituted for another, potentially causing structural protein defects like in sickle cell anemia
Central Dogma Exception
- Reverse transcriptase allows information flow from RNA to DNA, unlike the typical DNA → RNA → Protein flow.
Gene Therapy
- It aims to insert a normal gene copy into somatic cells to restore protein function, particularly for recessive disorders.
PCR
- Taq polymerase's heat resistance is essential for DNA denaturation and amplification.
Genetic Diversity in Meiosis
- It is achieved through independent assortment and crossing over during prophase I and metaphase I.
Transcription vs. Translation
- Transcription synthesizes RNA in the nucleus.
- Translation synthesizes proteins in the cytoplasm.
DNA Replication vs. Transcription
- DNA replication duplicates the entire genome.
- Transcription copies specific genes into mRNA.
DNA Structure
- It has a double helix of antiparallel strands, with A-T and G-C base pairing.
Frameshift Mutations/Codons
- Frameshifts do not occur when nucleotides are added or removed in multiples of three
- Codon deletion preserves the reading frame.
Nonsense Mutations
- They lead to shortened, nonfunctional proteins by introducing premature stop codons.
Heterozygous vs. Homozygous Genotypes
- Heterozygous genotypes involves that a dominant allele masks a recessive one.
- Homozygous individuals have two identical alleles.
DNA vs. RNA
- DNA contains thymine
- RNA uses uracil.
Post-Transcription Processing
- Includes intron removal and exon splicing to form mature mRNA.
Diploid Cells
- They contain two chromosome sets, totaling 46 in humans.
Locus
- Designates a gene's location on a chromosome.
Reverse Transcription
- This synthesizes DNA from an RNA template, found in retroviruses.
Gene Therapy for ADA
- Introduces a normal ADA gene into hematopoietic stem cells.
Errors in Meiosis I
- Can create new allele combinations through synapsis and crossing over in prophase I.
Mitosis vs Meiosis
- DNA replication happens during the S-phase (Interphase), not during mitosis
- Mitosis occurs in somatic cells, producing identical cells.
- Meiosis occurs in germline cells, producing haploid gametes.
Ribosomes
- They translate mRNA into the protein by assembling amino acids sequentially
Sickle-Cell Anemia
- It originates from a missense mutation.
- Valine replaces glutamic acid and alters the hemoglobin shape.
PCR in Infectious Disease Diagnosis
- PCR rapidly amplifies DNA for detecting pathogens, even at low concentrations.
Allele
- An alternate gene version is responsible for trait variation.
Frameshift Mutations
- They lead to premature stop codons and shortened proteins.
Prophase I (Meiosis) vs .Mitosis
- They synapsis and cross over in Prophase I (Meiosis)
DNA Polymerase
- It adds complementary nucleotides during replication.
Trisomy
- It results from nondisjunction, leading to extra chromosomes
Haploid Cells
- Have half the chromosomes found in diploid cells, totaling 23 in humans.
Insertion of Three Nucleotides
- It adds one amino acid and causes no frameshift
Gene Therapy Specificity
- It corrects somatic cell defects, which affects those individuals
- It does not modify offspring inheritance.
DNA Replication vs Transcription
- Cytosine and guanine pair during DNA replication and transcription
- Proofreading only occurs during DNA replication
DNA Ligase
- It joins Okazaki fragments on the lagging strand
Silent Mutations
- These types of mutations have a minimalist effect because there is no amino acid change
Point vs. Chromosomal Mutations
- Point mutations occur in a single nucleotide
- Chromosomal mutations take place across large DNA segments
DNA Transcription
- RNA uses polymerase
- MRNA comes from a DNA template strand
Chromosomal Abnormalities
- They involve changes in number or structure
Meiosis I
- Cohesion keeps sister chromatids together at the centromere which keeps them from separating until meiosis
Central Dogma Exception
- Protein cannot encode for DNA
Meiosis
- Synapsis of homologous chromosomes is unique only to meiosis
MRNA vs TRNA
- MRNA carries the genetic instructions
- TRNA delivers amino acids
Down Syndrome
- Trisomy 21 causes Down Syndrome
- When Trisomy 21 occutrs, the patient has an extra chromosome
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Description
Overview of genetics including autosomal recessive disorders, mutations, meiosis, and other key concepts such as histones, DNA polymerase, and the central dogma exception. Covers frameshift, missense, and nonsense mutations.
