MBG BLOCK 4 OVERVIEW QUIZ FROM SUMMARY SLIDE DECK

<p>It refers to a variant linked to an increased risk of disease. (C)</p> Signup and view all the answers

<p>There can be a discrepancy in the frequency of males and females affected. (B)</p> Signup and view all the answers

<p>De novo chromosomal rearrangement or mutation in gametogenesis (C)</p> Signup and view all the answers

<p>MAP Kinase signaling (C)</p> Signup and view all the answers

<p>It is a secondary messenger that activates protein kinases. (D)</p> Signup and view all the answers

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

<p>Protein misfolding can lead to gain or loss of function mutations. (B)</p> Signup and view all the answers

<p>Secondary structures can influence the efficiency of translation. (A)</p> Signup and view all the answers

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

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

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

<p>Breakdown of branched-chain alpha-keto acids (A)</p> Signup and view all the answers

<p>Point mutation in a single nucleotide (C)</p> Signup and view all the answers

<p>High glucose, high lactose, and high tryptophan (D)</p> Signup and view all the answers

<p>It is associated with sporadic forms of cancer. (B)</p> Signup and view all the answers

<p>Capillary bed altered with incomplete basement membranes. (D)</p> Signup and view all the answers

<p>High levels of tryptophan. (A)</p> Signup and view all the answers

<p>WFS1 (C)</p> Signup and view all the answers

<p>Risk of disease presentation increases with repeats. (C)</p> Signup and view all the answers

<p>It leads to reduced transcription through feedback inhibition. (C)</p> Signup and view all the answers

<p>WFS1 (A)</p> Signup and view all the answers

<p>Lower than normal activity due to lack of cAMP. (B)</p> Signup and view all the answers

<p>Gain of signal transduction properties leading to uncontrolled growth. (D)</p> Signup and view all the answers

<p>The mutation primarily causes uncontrolled cell proliferation (B)</p> Signup and view all the answers

<p>Basement membranes are disrupted leading to increased permeability (D)</p> Signup and view all the answers

<p>Transcription is inhibited mainly due to low glucose (D)</p> Signup and view all the answers

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

<p>The child has a 50% chance of inheriting the variant and thus the disease (B)</p> Signup and view all the answers

<p>AA or Aa for at least one parent (C)</p> Signup and view all the answers

<p>Affected parents must be aa, while unaffected parents must be Aa. (A)</p> Signup and view all the answers

<p>Mild or low presentations may occur without triggers. (A)</p> Signup and view all the answers

<p>Autosomal recessive, since unaffected parents can have affected children. (A)</p> Signup and view all the answers

<p>Variability in onset is likely with exposure to triggers. (D)</p> Signup and view all the answers

<p>X-linked inheritance indicating a gender bias. (C)</p> Signup and view all the answers

<p>Affected, contributing to conceivable recessive inheritance. (C)</p> Signup and view all the answers

<p>Applying specific examples while ignoring general implications. (C)</p> Signup and view all the answers

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

<p>Operon is turned off (D)</p> Signup and view all the answers

<p>Affects timing and location of translation (C)</p> Signup and view all the answers

<p>Shortened transcripts or lower transcription levels (B)</p> Signup and view all the answers

<p>Affect access to transcriptional and translational machinery (A)</p> Signup and view all the answers

<p>Operon is ON unless a repressor is bound (D)</p> Signup and view all the answers

<p>Tryptophan acts as a repressor preventing transcription (D)</p> Signup and view all the answers

<p>It becomes functionally ineffective (B)</p> Signup and view all the answers

<p>Operon is often turned off (B)</p> Signup and view all the answers

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

<p>Retained function due to phosphorylation compatibility (A)</p> Signup and view all the answers

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

<p>Central core myopathies (C)</p> Signup and view all the answers

<p>Tissue specificity is based on pathway expression. (D)</p> Signup and view all the answers

<p>Toxic build-up of amino acids (D)</p> Signup and view all the answers

<p>Facial dysmorphisms and severe respiratory involvement (B)</p> Signup and view all the answers

<p>Loss of function of the protein (D)</p> Signup and view all the answers

<p>Milder PKU could be considered a variant condition (C)</p> Signup and view all the answers

<p>Inducing abnormal protein folding in normal proteins (D)</p> Signup and view all the answers

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

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

<p>De novo mutations during embryogenesis (D)</p> Signup and view all the answers

<p>MAP Kinase signaling (A)</p> Signup and view all the answers

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

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

<p>Variable loss of enzyme function (A)</p> Signup and view all the answers

<p>Maple Syrup Urine Disease (MSUD) (A)</p> Signup and view all the answers

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

<p>De novo mutation in germ cells only (A)</p> Signup and view all the answers

A pattern of inheritance where only one copy of a mutated gene is needed for the trait to be expressed.

A pattern of inheritance where two copies of a mutated gene are needed for the trait to be expressed.

Parents can have either AA or Aa genotype to have affected offspring.

Parents can be aa (affected) or Aa (unaffected) for a recessive trait.

Genetic disorders whose phenotype is influenced by environmental factors.

Manifestation of a genetic disorder when no environmental trigger is present, could be mild or absent.

Environmental factors increase the severity or appearance of genetic phenotypes.

A pattern of inheritance where a mutated gene is located on the X chromosome, often impacting males more frequently.

The blood vessels near a metastatic cancer site are characterized by altered structure and permeability, with incomplete basement membranes.

An acquired mutation in the Ras gene, often an activating mutation, that contributes to cancer initiation.

Lac operon activity, in the presence of high glucose and high lactose, would be less than its maximum activity due to the loss of cAMP activation.

When glucose levels are low and tryptophan levels are high, Lac operon activity is low due to insufficient lactose.

High levels of tryptophan result in the formation of an aporepressor, leading to decreased Trp operon activity.

Genes like APP, PSEN1, PSEN2, and APOE are linked to autosomal dominant Alzheimer's, with APOE-ε4 increasing disease severity and risk.

WFS1 gene is linked to Wolfram syndrome, characterized by autosomal recessive inheritance and DIDMOAD presentation.

Huntington's disease is linked to an expansion in the HTT gene's CAG repeats, with more repeats leading to greater severity and risk.

Genes involved in spina bifida and myelomeningocele are linked to neural tube closure, often related to folic acid metabolism.

HOXD13 gene is linked to syndactyly, where apoptosis fails, resulting in underdeveloped structure.

A genetic disorder where the body cannot properly break down phenylalanine, leading to elevated levels of phenylalanine in the blood.

A genetic disorder affecting the metabolism of fructose, causing a buildup of fructose in the body.

A genetic disorder impacting the processing of galactose (a sugar), causing a buildup of galactose causing toxic effects.

A mutation on the Y chromosome affecting male fertility.

A mutation that occurs during the formation of sperm or eggs that is not inherited from the parent.

A cellular pathway involved in various functions, including cardiovascular development and diseases.

A cell that does not respond to signals that normally induce cell death.

Abnormal cervical cells, but no abnormal increase in cell numbers

If a child inherits an autosomal dominant condition, at least one parent must have either one or two copies of the mutated gene (AA or Aa genotype).

For a child to inherit an autosomal recessive condition, both parents must carry at least one copy of the mutated gene (aa or Aa genotype).

If a pedigree shows more males affected than females, especially if a father passes the condition to his son, it suggests an X-linked recessive inheritance pattern.

Some genetic disorders only manifest their symptoms when certain environmental factors (triggers) are present.

Without triggers, the symptoms of a genetic disorder might be very mild, delayed, or might not even appear.

Environmental triggers can increase the severity or speed up the onset of symptoms for certain genetic disorders.

Understanding how a particular case (e.g., a family with a specific disease) illustrates a broader genetic concept.

Recognizing the broader principles and implications of a specific example in the context of genetics and human disease.

Anaplastic growth is a hallmark of highly aggressive cancers. Cells lose their normal shape and organization, becoming undifferentiated and often rapidly dividing.

A genetic disorder affecting the breakdown of phenylalanine, impacting brain development and causing intellectual disabilities.

A genetic disorder affecting the breakdown of branched-chain amino acids, leading to a buildup of harmful substances in the body.

Abnormal cell growth in the cervix that doesn't involve an increase in cell numbers. It's considered a precancerous condition.

The first stage of cancer development, involving a genetic mutation within a cell that makes it more prone to becoming cancerous.

The lac operon is an example of an operon that is turned on when needed, specifically when lactose is present and glucose is low.

The Trp operon is an example of an operon that has both transcriptional and translational regulation. It is turned off when tryptophan levels are high.

Translational regulation in eukaryotes influences both the level of protein synthesis and the location of translation within the cell.

The three-dimensional folding of mRNA molecules, known as higher-order structures, can affect the accessibility of both transcriptional and translational machinery.

If a repressor protein is constantly bound to the operator region of an operon, gene expression will be permanently turned off.

If cAMP is always bound to the operon, it promotes gene expression even in the absence of the repressor protein.

If mRNA folding is disrupted and this folding is crucial for transcription, the result can be shorter transcripts (premature termination) or reduced transcription levels.

A protein that cannot spontaneously fold and is unable to interact with folding machinery will be deficient in all levels of protein structure.

Protein aggregation occurs when misfolded proteins clump together, often disrupting cellular processes.

A misfolded protein that can induce other normal proteins to misfold, potentially leading to disease. Prions are capable of causing similar misfolding in other cells, making them infectious.

Altering a protein's serine sites to threonine, which are both phosphorylated by similar kinases, could still retain function. However, complete loss of phosphorylation ability can lead to a loss of function.

A mutation in the RYR1 gene is linked to congenital myopathies, particularly central core myopathies. This gene plays a role in calcium release in muscle cells.

Metabolic disorders can affect specific tissues based on the expression of the affected pathway. Tissues that don't utilize the pathway won't be affected.

Disorders affecting the breakdown of amino acids often result in the buildup of the amino acid and/or disruption of downstream pathways, potentially leading to toxic effects.

Less severe cases of PKU can be thought of as 'hyperphenylalaninemia,' meaning elevated phenylalanine levels.

A mutation that changes a codon for an amino acid to a stop codon, leading to a truncated protein.

This refers to a mutation that occurs in both copies of a gene, present on both chromosomes inherited from the parents.

These are a group of muscle disorders that are present at birth. They affect muscle development and function.