Molecular Genetics Part 1
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Questions and Answers

During which cellular process are chromosomes replicated to facilitate the creation of additional cells?

  • Translation
  • Transcription
  • Mitosis (correct)
  • Meiosis

Following DNA replication and condensation, a mitotic chromosome consists of what?

  • A single DNA strand attached to a centromere.
  • A fragmented set of DNA pieces.
  • Two identical sister chromatids joined at the centromere. (correct)
  • Multiple homologous chromosomes intertwined at the chiasmata.

According to the central dogma of molecular biology, what is the correct order of information flow in most biological systems?

  • RNA → DNA → Protein
  • Protein → RNA → DNA
  • DNA → RNA → Protein (correct)
  • Protein → DNA → RNA

What is the primary function of mRNA in the context of the central dogma?

<p>To carry genetic information from DNA for protein synthesis. (A)</p> Signup and view all the answers

Which of the following processes represents an exception to the central dogma of molecular biology, as observed in certain viruses?

<p>Reverse Transcription (A)</p> Signup and view all the answers

What genetic anomaly is most likely detected using karyotyping?

<p>Gross chromosomal defect (A)</p> Signup and view all the answers

Which of the following mutations results in a shift in the reading frame during translation, provided the change does not involve a multiple of three nucleotides?

<p>Deletion (B)</p> Signup and view all the answers

In Mendel's model of heredity, what determines the traits exhibited by an individual?

<p>The individual's genotype (C)</p> Signup and view all the answers

A researcher identifies a mutation where a segment of DNA within a chromosome has been flipped 180 degrees. Which type of mutation is this?

<p>Inversion (D)</p> Signup and view all the answers

Which type of chromosomal mutation involves the exchange of DNA segments between two non-homologous chromosomes?

<p>Translocation (D)</p> Signup and view all the answers

What term describes an individual with two different alleles for a particular gene?

<p>Heterozygous (D)</p> Signup and view all the answers

A geneticist is analyzing a patient's karyotype and notices that chromosome 2 and chromosome 9 have exchanged segments. There's no apparent gain or loss of genetic material. Which of the following is the most likely type of mutation?

<p>Balanced reciprocal translocation (A)</p> Signup and view all the answers

In a Punnett square, what do the inner boxes represent?

<p>The potential offspring genotypes (A)</p> Signup and view all the answers

Which scientist(s) demonstrated that genes are located on chromosomes through experiments with Drosophila melanogaster?

<p>Thomas Hunt Morgan (C)</p> Signup and view all the answers

What is the function of restriction enzymes in recombinant DNA technology?

<p>To cut DNA at specific sequences (B)</p> Signup and view all the answers

Reverse transcriptase is an enzyme that performs which of the following functions?

<p>Synthesizes DNA from an RNA template (D)</p> Signup and view all the answers

What is the primary application of Polymerase Chain Reaction (PCR)?

<p>Amplifying DNA (B)</p> Signup and view all the answers

Consider a scenario where a researcher aims to insert a human gene into a bacterial plasmid. After successfully isolating both the gene of interest and the plasmid, which enzyme is indispensable for creating a stable, recombinant DNA molecule?

<p>DNA Ligase (A)</p> Signup and view all the answers

What is the total number of chromosomes found in a typical human diploid cell?

<p>46 (C)</p> Signup and view all the answers

Which best describes the arrangement of genes on a chromosome?

<p>Arranged in a linear sequence along the DNA strand. (D)</p> Signup and view all the answers

Approximately what percentage of the human genome is composed of genes (coding DNA)?

<p>5% (B)</p> Signup and view all the answers

What is the primary function of histone proteins in chromosome structure?

<p>To help package and condense DNA into chromatin. (D)</p> Signup and view all the answers

During which phase of the cell cycle are chromosomes most tightly condensed and visible under a light microscope?

<p>Mitosis (A)</p> Signup and view all the answers

What distinguishes chromatin from a condensed mitotic chromosome?

<p>Chromatin is the loosely coiled form of DNA, while condensed chromosomes are tightly packaged for cell division. (A)</p> Signup and view all the answers

A researcher isolates a cell and finds it contains 23 chromosomes. This cell is MOST likely a:

<p>gamete. (B)</p> Signup and view all the answers

A geneticist is studying a newly discovered gene and determines that it contains 1.2 x 10^6 base pairs. Given that the haploid human genome contains approximately 3 x 10^9 base pairs, what percentage of the haploid genome does this gene represent?

<p>0.04% (B)</p> Signup and view all the answers

Which type of chromosomal mutation involves a segment of a chromosome being removed and then reinserted in the reverse orientation?

<p>Inversion (C)</p> Signup and view all the answers

A genetic mutation results in the following change to the mRNA sequence: 5'-AUG UUC AGU-3' to 5'-AUG UUC UGA-3'. What type of point mutation is most likely responsible for this change?

<p>Nonsense mutation (D)</p> Signup and view all the answers

A researcher is studying a new gene and observes that an insertion mutation has occurred, adding a single base pair within the coding region. Which of the following is the most likely consequence of this mutation?

<p>A frameshift mutation, altering the amino acid sequence downstream of the insertion. (C)</p> Signup and view all the answers

Which of the following mutations is least likely to have a significant impact on the function of the encoded protein?

<p>A silent mutation in the third position of a codon. (C)</p> Signup and view all the answers

Considering the intricate mechanisms of DNA repair and the redundancy of the genetic code, what is the probability that a single base pair mutation in a non-coding, intronic region of a human gene will result in a phenotypic change detectable at the organismal level, assuming no other mutations are present?

<p>Extremely low, bordering on negligible, due to the location's lack of direct coding function and potential repair mechanisms. (C)</p> Signup and view all the answers

During meiosis I, what structure is formed at the site of crossing-over between homologous chromosomes?

<p>Chiasma (C)</p> Signup and view all the answers

In which phase of meiosis do homologous chromosomes separate, leading to a reduction in chromosome number?

<p>Anaphase I (C)</p> Signup and view all the answers

Unlike mitosis, during metaphase I of meiosis, a unique configuration is observed regarding kinetochore attachment. Which of the following accurately describes this?

<p>Both kinetochores of a sister chromatid pair attach to spindle fibers from the same pole. (B)</p> Signup and view all the answers

What is the primary significance of crossing over during prophase I of meiosis?

<p>It increases genetic variation among daughter cells. (B)</p> Signup and view all the answers

Which phase of meiosis is most similar to the phases of mitosis in terms of the events that occur?

<p>Meiosis II (B)</p> Signup and view all the answers

If sister chromatids were to separate during anaphase I of meiosis instead of anaphase II, what would be the most immediate consequence for the resulting daughter cells?

<p>Daughter cells would be diploid instead of haploid. (D)</p> Signup and view all the answers

Throughout meiosis I, sister chromatids remain joined at their centromeres. What is the functional significance of this cohesion until anaphase II?

<p>To ensure that homologous chromosomes, not sister chromatids, separate in meiosis I. (A)</p> Signup and view all the answers

In mitosis, each sister chromatid's kinetochore attaches to spindle fibers from opposite poles. How does kinetochore attachment in meiosis I fundamentally differ from this, and what is the direct functional outcome of this difference?

<p>In meiosis I, both kinetochores of a sister chromatid pair attach to spindle fibers from the same pole, resulting in homologous chromosome separation in anaphase I. (D)</p> Signup and view all the answers

Post DNA replication and chromosome condensation, what is the configuration of a mitotic chromosome?

<p>Two identical sister chromatids joined at the centromere. (A)</p> Signup and view all the answers

Which of the following cellular functions is MOST directly dependent on the information encoded within chromosomes?

<p>Encoding proteins that dictate cellular structure and function. (A)</p> Signup and view all the answers

During meiosis, chromosomes are segregated to produce gametes. What is the PRIMARY purpose of this segregation?

<p>To ensure each gamete receives the correct number of chromosomes. (D)</p> Signup and view all the answers

In the context of the central dogma of molecular biology, reverse transcriptase, an enzyme found in certain viruses, catalyzes which of the following reactions?

<p>RNA-dependent DNA synthesis (D)</p> Signup and view all the answers

Consider a hypothetical scenario in which a novel synthetic molecule is introduced into a cell, selectively disrupting the function of ribosomal RNA (rRNA). What immediate downstream effect would most likely be observed?

<p>Accumulation of unfolded proteins as a result of translation inhibition. (C)</p> Signup and view all the answers

A chromosome breaks, and a fragment reattaches to the original chromosome in reverse order. Which type of chromosomal mutation is this?

<p>Inversion (A)</p> Signup and view all the answers

A point mutation causes a codon to change from coding for an amino acid to a stop codon. What type of point mutation is this?

<p>Nonsense mutation (B)</p> Signup and view all the answers

Which of the following mutations would least likely result in a frameshift?

<p>Insertion of three nucleotides (D)</p> Signup and view all the answers

During genetic sequencing, a researcher identifies a mutation in a coding region of a gene that does not alter the amino acid sequence of the resulting protein. Which of the following best describes this type of mutation?

<p>Silent mutation (D)</p> Signup and view all the answers

In a hypothetical scenario, a novel tRNA modification enzyme malfunctions, leading to misreading of the genetic code during translation. One specific codon, normally coding for serine, is now frequently misinterpreted as alanine. Assuming no other cellular mechanisms compensate for this error, what would be the most likely long-term consequence on the proteome of the affected organism, considering the chemical properties of serine and alanine?

<p>Localized changes in protein structure and function, particularly affecting regions sensitive to subtle alterations in side-chain chemistry. (C)</p> Signup and view all the answers

What is the role of chiasmata during meiosis I?

<p>To maintain the association between homologous chromosomes until metaphase I. (D)</p> Signup and view all the answers

During metaphase I of meiosis, how do the kinetochores of a condensed chromosome attach to the spindle fibers?

<p>Only one of the two kinetochores on each chromosome attaches to spindle fibers. (D)</p> Signup and view all the answers

Which of the following events is unique to meiosis I, distinguishing it from mitosis?

<p>Synapsis and crossing over of homologous chromosomes. (D)</p> Signup and view all the answers

What is the consequence if sister chromatids separate during anaphase I instead of anaphase II?

<p>The resulting daughter cells would have an abnormal number of chromosomes (aneuploidy). (A)</p> Signup and view all the answers

During which phase of meiosis do sister chromatids finally separate?

<p>Anaphase II (A)</p> Signup and view all the answers

Which of the following best describes the outcome of meiosis I?

<p>The segregation of homologous chromosomes (B)</p> Signup and view all the answers

Which of the following phases of meiosis most closely resembles the events of mitosis?

<p>Meiosis II as a whole (D)</p> Signup and view all the answers

Imagine a scenario where, due to a cellular error, the cohesin complex fails to maintain the cohesion of sister chromatids throughout meiosis I. Assuming this error does not trigger cell cycle arrest, what is the most likely downstream consequence regarding chromosome segregation?

<p>Sister chromatids would prematurely segregate during anaphase I, leading to aneuploidy in the resulting daughter cells. (D)</p> Signup and view all the answers

Which of the following correctly ranks the severity of mutation effects, from most to least severe?

<p>Nonsense &gt; Missense &gt; Silent (C)</p> Signup and view all the answers

Sickle-cell anemia results from a single point mutation in the gene encoding hemoglobin B. This mutation leads to which of the following consequences?

<p>Substitution of one amino acid in the hemoglobin B protein. (C)</p> Signup and view all the answers

House-keeping genes are expressed by all cells continuously. What is a likely characteristic of house-keeping genes?

<p>They encode proteins essential for basic cellular functions. (B)</p> Signup and view all the answers

Epigenetic modifications, such as DNA methylation and histone modification, lead to altered expressions of genes. Which of the following is an accurate description of epigenetic modifications?

<p>They can be inherited but can also be modified after inheritance. (C)</p> Signup and view all the answers

Mitochondrial inheritance differs significantly from nuclear inheritance. A genetic counselor is advising a family with a history of a mitochondrial disorder. Which of the following statements accurately describes mitochondrial inheritance?

<p>Mitochondrial DNA is inherited exclusively from the mother. (A)</p> Signup and view all the answers

Which of the following best describes the primary purpose of the S phase within the cell cycle?

<p>Replication of DNA (C)</p> Signup and view all the answers

At which stage of mitosis are the condensed mitotic chromosomes, each consisting of two sister chromatids, aligned along the equatorial plane of the cell?

<p>Metaphase (D)</p> Signup and view all the answers

What event characterizes anaphase during both mitosis and meiosis II?

<p>Separation of sister chromatids (D)</p> Signup and view all the answers

Which of the following events occurs during telophase?

<p>Reformation of the nuclear envelope (D)</p> Signup and view all the answers

What is the ploidy of somatic cells in humans, and how do they typically reproduce?

<p>Diploid, by mitosis (D)</p> Signup and view all the answers

What is the correct number of chromosomes in a human gamete, and how are gametes produced?

<p>23, by meiosis (D)</p> Signup and view all the answers

What is the immediate result of sperm and egg fusing?

<p>Zygote (B)</p> Signup and view all the answers

What cellular process reduces the chromosome number from diploid to haploid?

<p>Meiosis (D)</p> Signup and view all the answers

How many haploid cells are produced from one diploid germline cell after meiosis?

<p>4 (C)</p> Signup and view all the answers

During what specific phase of meiosis does synapsis occur?

<p>Prophase I (A)</p> Signup and view all the answers

During which stage of meiosis does crossing over contribute to genetic variation?

<p>Prophase I (B)</p> Signup and view all the answers

What is the direct result of the independent assortment of chromosomes during metaphase I?

<p>Random arrangement of maternal and paternal chromosomes (A)</p> Signup and view all the answers

Why are mutations in gamete DNA considered inheritable?

<p>They are passed on to offspring through sexual reproduction (C)</p> Signup and view all the answers

What is the function of DNA polymerase during DNA replication?

<p>To proofread and reduce errors during DNA replication (A)</p> Signup and view all the answers

Which of the following chromosomal abnormalities leads to a trisomic individual?

<p>Having an extra copy of a chromosome (B)</p> Signup and view all the answers

A man with a known chromosomal translocation is phenotypically normal, yet during meiosis, his chromosomes misalign, leading to unbalanced gametes with partial duplications and deletions. If he and a woman with a normal karyotype conceive, what is the most likely outcome for their offspring?

<p>The likelihood of each offspring inheriting a normal, balanced, or unbalanced chromosome complement is statistically predictable, with potential for viable but affected offspring. (B)</p> Signup and view all the answers

A researcher is investigating a gene responsible for regulating metabolism. They discover a mutation in a gene that encodes a protein which binds to a specific region of DNA to enhance transcription. This mutation significantly reduces the protein's binding affinity. What is the most likely outcome?

<p>Decreased transcription of the target gene, leading to metabolic deficiency. (B)</p> Signup and view all the answers

A couple, both phenotypically normal, have a child diagnosed with a rare recessive genetic disorder. After genetic counseling, they discover that each parent carries a loss-of-function mutation in the same gene but on different chromosomes. Further analysis reveals that the wild-type gene product is essential for the correct folding of another protein expressed in the cytoplasm. Given that the wild-type protein level is just sufficient for proper folding under normal circumstances, what is the most likely mechanism leading to the child's affected phenotype?

<p>The child inherited both mutated alleles, leading to a complete absence of the wild-type protein needed to facilitate the correct folding of the critical cytoplasmic protein. (A)</p> Signup and view all the answers

What does it mean to be homozygous?

<p>An individual with two identical alleles (B)</p> Signup and view all the answers

What is a key function of Histone proteins?

<p>DNA packaging (B)</p> Signup and view all the answers

What holds the two DNA strands together?

<p>Hydrogen bonds connect the two strands</p> Signup and view all the answers

Which type of cell undergoes Mitosis?

<p>Somatic cells</p> Signup and view all the answers

Which phase of cell division occurs first?

<p>Prophase (B)</p> Signup and view all the answers

Flashcards

Allele Inheritance

Each individual inherits two alleles for each gene, one from each parent.

Genotype

The genetic makeup of an individual, describing the specific alleles they possess.

Phenotype

The observable traits or characteristics of an individual, determined by the genotype.

Homozygous

An individual possessing two identical alleles for a particular gene.

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Heterozygous

An individual possessing two different alleles for a particular gene.

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Punnett Square

A visual representation used to predict the possible genotypes of offspring in a genetic cross.

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Restriction Enzymes

Enzymes that cut DNA at specific sequences, enabling the creation of DNA fragment patterns.

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Polymerase Chain Reaction (PCR)

A technique used to amplify specific DNA sequences quickly in a test tube.

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Mitotic Chromosome Composition

Following DNA replication and condensation, each chromosome consists of two identical sister chromatids joined at the centromere.

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Gene Function

These are genetic sequences within chromosomes which contain instructions for an organism's growth and function, primarily encoding proteins.

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Mitosis

This is the replication process of chromosomes during cell division to create new cells.

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Meiosis

This is the separation of chromosomes during the creation of sperm and egg cells.

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DNA vs. RNA Function

DNA stores genetic information, while RNA helps decode this to direct protein synthesis.

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Diploid Cells

Cells containing two sets of chromosomes (2n), in humans, 46 chromosomes.

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Haploid Cells

Cells containing one set of chromosomes (n), in humans, 23 chromosomes.

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Genome

The complete set of DNA (genes) in a cell or organism.

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Gene

Specific sequence of nucleotides within a DNA molecule.

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Locus

The specific location of a gene on a chromosome.

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Chromatin

DNA loosely coiled around histone proteins, accessible to enzymes.

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Nucleosome

A segment of DNA wrapped around a core of histone proteins.

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Condensed Chromosomes

Tightly packaged form of DNA during cell division.

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Karyotype

The number and appearance of chromosomes in an individual.

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Karyotyping Use

Detects large-scale abnormalities in chromosome structure or number.

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Insertions (genetics)

Addition of extra nucleotides into a DNA sequence.

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Deletions (genetics)

Loss of nucleotides from a DNA sequence.

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Inversions (genetics)

Switching the order of a DNA section of a chromosome.

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Crossing Over

Genetic exchange between homologous chromosomes during synapsis.

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Chiasmata

Sites of crossing-over that help hold homologous chromosomes together until metaphase I.

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Metaphase I Uniqueness

Homologous chromosomes remain paired, and only one kinetochore attaches to spindle fibers.

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Sister Chromatids I

Sister chromatids remain connected in meiosis I.

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Meiosis I Segregation

Homologous chromosomes are separated.

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Meiosis II Segregation

Sister chromatids are separated.

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Anaphase II

Separation of sister chromatids.

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Meiosis Character

Synapsis and crossing over during prophase I.

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Deletion (chromosomal)

A type of chromosomal mutation where a segment of the chromosome is lost.

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Point Mutation

A change in a single base pair within a DNA sequence.

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Silent Mutation

A point mutation that results in a codon coding for the same amino acid.

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Nonsense Mutation

A point mutation where a codon is changed to a stop codon, resulting in a shortened protein.

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Missense Mutation

A point mutation that results in a codon coding for a different amino acid.

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Centromere

The point on a chromosome where sister chromatids are joined.

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Chromosome Arms

Short (p) and long (q) sections extending from the centromere of a chromosome.

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DNA Replication

The process of copying DNA to produce more cells.

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Deoxyribonucleic Acid (DNA)

A molecule that stores and transmits genetic information, encoding instructions for RNA and protein production.

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Duplication (chromosomal)

Part of a chromosome is copied, resulting in multiple copies of the same genetic material.

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Inversion (chromosomal)

A section of a chromosome is flipped, reversing the order of genes in that segment.

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Translocation (chromosomal)

Part of one chromosome breaks off and attaches to another non-homologous chromosome.

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Frameshift Mutation

Mutations caused by insertions or deletions where the number of bases added or removed is not a multiple of three, leading to a shift in the reading frame during translation.

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Mutation Severity Order

Mutations that affect the protein sequence, ranked from most to least severe in effect.

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Sickle-Cell Anemia

A genetic disease caused by a single missense mutation in the beta-globin gene, leading to abnormal hemoglobin.

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Epigenetics

Chemical modifications to DNA or histones that alter gene expression without changing the DNA sequence itself.

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Meiosis Outcome

Division that produces genetically unique daughter cells.

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Independent Assortment

Random alignment of maternal and paternal chromosomes during metaphase I, increasing genetic diversity.

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Mutation

Alteration in the DNA sequence, potentially caused by mutagens or replication errors.

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Mutagens

Chemicals or radiation that damage or alter DNA, increasing mutation rates.

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DNA Repair Enzymes

Enzymes that correct errors during DNA replication.

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Trisomic

Condition caused by having an extra chromosome.

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Monosomic

Condition caused by missing a chromosome.

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Homologous Recombination

The process of genetic exchange between homologous chromosomes during prophase I of meiosis.

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Metaphase I Attachment

During metaphase I, homologous chromosomes remain paired, and only one kinetochore per chromosome attaches to spindle fibers.

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Sister Chromatid Cohesion (Meiosis I)

Sister chromatids remain joined at their centromeres throughout meiosis I, resulting in the segregation of homologous chromosomes.

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Meiosis II Outcome

Meiosis II separates sister chromatids, similar to mitosis, resulting in four haploid daughter cells.

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Anaphase II Separation

The separation of sister chromatids during anaphase II of meiosis.

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Meiosis I Uniqueness

Synapsis and crossing over are unique to meiosis I, creating genetic diversity in offspring.

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Cell Cycle

The process where a cell divides its genome and itself into two distinct cells.

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S Phase

The stage where DNA is replicated within the cell cycle.

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M Phase

The phase of the cell cycle where condensed chromosomes are separated into two equal genomes.

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C Phase

The phase of the cell cycle where the cell physically splits into two daughter cells.

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Kinetochore

A protein structure on chromatids where the spindle fibers attach during cell division to pull the sister chromatids apart.

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Prophase

The stage where the nuclear envelope breaks down, chromosomes condense, and spindle fibers form.

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Metaphase

The stage where chromosomes align at the metaphase plate.

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Synapsis

Pairing of homologous chromosomes during prophase I of meiosis.

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Autosomal Recessive

Both copies of a gene must be mutated for the disease to manifest.

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Histone Proteins

Package DNA into nucleosomes and help regulate gene expression.

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Meiosis II

Resembles mitosis with separation of sister chromatids.

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DNA Polymerase

Synthesizes the new DNA strand AND proofreads it to ensure accuracy.

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Reverse Transcriptase

Synthesizes DNA from RNA; an exception to the central dogma.

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Gene Therapy

Insert a normal allele into somatic cells to restore protein function.

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Taq Polymerase

Essential for PCR due to its heat-resistant properties.

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Genetic Variation (Meiosis)

Independent assortment of chromosomes during metaphase I.

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Transcription

RNA synthesis in the nucleus.

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Translation

Protein synthesis in the cytoplasm

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Transcription

Copies specific genes into mRNA.

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DNA Structure

Double helix with antiparallel strands.

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No Frameshift

Deletion of 3 nucleotides preserves the reading frame.

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Heterozygous Expression

Dominant allele masks the recessive allele in heterozygotes.

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RNA vs. DNA Bases

RNA uses uracil instead of thymine.

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Post-Transcriptional Splicing

Removes introns and joins exons.

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Diploid

Two sets of chromosomes.

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Allele

Alternate version of a gene.

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Reverse Transcription

Synthesis of DNA from an RNA template.

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ADA Gene Therapy

Introduce ADA gene into stem cells.

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Chromosome Replication

Replicated during S-phase of interphase.

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Meiosis Location

Occurs in germline cells to produce gametes.

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Ribosome Function

Translate mRNA into proteins.

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Sickle-Cell Mutation

Glutamic acid replaced by valine.

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What is an Allele?

An alternate version of a gene that can result in different traits.

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Study Notes

Okay, I can do that for you, here are the updated study notes:

The Birth of Genetics

  • Gregor Mendel is considered the "Father of modern genetics."
  • Mendel, an Austrian Augustine monk, studied trait inheritance in garden pea plants from 1822-1884.
  • Mendel analyzed the results of plant crosses not only by describing them but by counting and analyzing numbers.
  • Mendel described simple trait inheritance and variation.

Genetic Definitions

  • Genetics: the study of heredity and the variation of inherited characteristics.
  • Traits: physical appearance or characteristic of an organism that may be inherited, environmentally determined, or a combination of both.
  • Inherited traits or characteristics, are determined by inherited genes.

Mendel's Studied Traits

  • Each trait studied had 2 alternate forms and variations.
  • Each trait form was determined by a unique allele, with little influence from the environment.
  • Allele: alternate version of a gene.

Mendel's Model of Heredity

  • Gene: information for a trait passed from parents to offspring, Genes cause the trait.
  • Genes correspond to specific DNA segments.
  • Alleles: alternate versions of a gene, are designated by a letter, with the dominant allele as capital and the recessive allele as lowercase.
  • Dominant alleles (such as P) produce dominant traits, like the purple flower, while recessive alleles (such as p) produce recessive traits, like the white flower.
  • Different alleles have differences in their DNA sequences.
  • Each individual receives two alleles, copies of each gene, from the father's sperm and the mother's egg or ovum.
  • The alleles an individual possesses, is the genotype, determines what traits are exhibited, phenotype.
  • A true-breeding purple flower has a PP genotype and a purple flower phenotype.
  • Alleles don't seem to blend or change as they are transmitted to offspring.
  • A particular allele's presence does not ensure its trait will appear; recessive allele traits can be masked.
  • Mendel described the simplest form of trait inheritence in sexual animals and plants, called Mendelian Genetics.
  • Homozygous: individual with two identical alleles and Homo of Greek origin means same.
  • Homozygous dominant is PP and the true-breeding purple flower plant.
  • Homozygous recessive is pp and the true-breeding white flower plant.
  • Heterozygous: individual with two alleles that are different and Hetero of Greek origin means different
  • Pp heterozygous is the purple hybrid plant and not true-breeding.
  • The white flower trait of p is masked.

Punnett Square Analysis

  • Punnett Square Analysis can show the results of a genetic cross.
  • Possible alleles in pollen or egg are indicated in the outside boxes of the square.
  • The inner boxes represent plants that could be formed, specifically when the intersecting male pollen fertilizes the intersecting female egg.

Discovering the Gene

  • In the 1910s, Thomas Hunt Morgan showed that genes are found in chromosomes through experiments with Drosophila melanogaster, fruit flies.
  • From 1920s-1940s, DNA was determined to be the molecule containing our genes.
  • In 1953 Watson & Crick solved and described the molecular structure of DNA: Two strands of DNA base pair to form a double helix.

Recent Advances in Molecular Biology

  • In the 1970s: Recombinant DNA Technology was further researched,
  • Restriction enzymes were discovered to cut DNA at specific sequences, which allowed for the formation of DNA fragment patterns and DNA fingerprinting.
  • Enzymes were discovered to chemically link two DNA fragments back together with ligases.
  • Cloning vectors, bacterial plasmid DNA that can be altered to carry specific genes, were further investigated.
  • Discovery of reverse transcriptase, an enzyme that can produce a DNA copy of an RNA molecule, was discovered.
  • In the 1980's: a method was developed for amplifying DNA, called Polymerase Chain Reaction or PCR, which allows DNA to be amplified quickly in a test tube.
  • Faster research advances were possible, including DNA sequencing.
  • Nucleic acid detection of microbial diseases was now possible.
  • In the 1990's the Human Genome Sequencing Project completed in 2000.
  • First Gene Therapy Trials also began for immunocompromised children where the correct allele, DNA, was inserted into hematopoeitic stem cells.

Recent Advances in Molecular Genetics

  • Since 2000 there has been:
  • Large scale systemic analysis of RNA in transcriptomics, proteins in proteomics, and metabolites in metabolomics.
  • More identification of new genetic risk factors for diseases, and studies of how genes influence treatment responses.
  • Also Next Generation Sequencing and Advances in Gene Mapping which enables the sequencing/mapping of individual genomes, such as 23 and me testing.
  • This also has led to Personalized medicine, with customization of healthcare based on patient genetic information.

Basic Molecular Genetics

  • Chromosome: Includes location, structure, and organization.
  • Nucleic acids: DNA and RNA
  • Includes structure, gene organization, DNA synthesis by replication, RNA synthesis by transcription, protein synthesis by mRNA translation, DNA mutation and repair.
  • Also included are Mitosis and Meiosis.

The Nucleus

  • The cell's genetic material, the chromosome, is located in the nucleus.
  • The nucleus stores genetic material of the cell called DNA.
  • It's surrounded by the nuclear envelope which contains two phospholipid bilayers, with inner and outer membranes, that contain nuclear pores.
  • Nuclear pores permit the passage of molecules between the nucleus and cytoplasm; RNA can exit and nuclear proteins can enter.
  • Inside lies nucleoplasm

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