MBG BLOCK 4 OVERVIEW QUIZ FROM SUMMARY SLIDE DECK

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.