Genetics Chapter: Autosomal Inheritance

<p>They induce altered structures in normal proteins (D)</p> Signup and view all the answers

<p>Retention of function is likely if kinases can act on threonine (D)</p> Signup and view all the answers

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

<p>RYR1 gene (C)</p> Signup and view all the answers

<p>Secondary structure alone (A)</p> Signup and view all the answers

<p>Loss of functionality and interactions (D)</p> Signup and view all the answers

<p>Transcription is activated (B)</p> Signup and view all the answers

<p>A toxic build-up of the amino acid (A)</p> Signup and view all the answers

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

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

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

<p>Females during pregnancy (B)</p> Signup and view all the answers

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

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

<p>Non-PKU hyperphenylalaninemia (A)</p> Signup and view all the answers

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

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

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

<p>aa or Aa for both (C)</p> Signup and view all the answers

<p>No phenotype or very mild presentation (D)</p> Signup and view all the answers

<p>Folding or 3D conformations affecting access to machinery (C)</p> Signup and view all the answers

<p>The lac operon is on but suppressed (B)</p> Signup and view all the answers

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

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

<p>Decreased transcription activity (D)</p> Signup and view all the answers

<p>They influence severity and timing of expression (B)</p> Signup and view all the answers

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

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

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

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

<p>APP, PSEN1, PSEN2, APOE (C)</p> Signup and view all the answers

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

<p>Increased risk of disease presentation (A)</p> Signup and view all the answers

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

<p>Folic acid metabolism (D)</p> Signup and view all the answers

<p>It is linked to genetic changes in BCKDHA, BCKDHB, and DBT. (B)</p> Signup and view all the answers

<p>Formation of aporepressor and reduced transcription (C)</p> Signup and view all the answers

<p>Both parents must be aa. (A)</p> Signup and view all the answers

<p>No phenotype or very mild presentation. (A)</p> Signup and view all the answers

<p>It will be suppressed even in the presence of lactose. (B)</p> Signup and view all the answers

<p>It has significant translational control beyond transcription regulation. (D)</p> Signup and view all the answers

<p>X-linked inheritance. (B)</p> Signup and view all the answers

<p>Lactose acts as an inducer but activity will be low. (C)</p> Signup and view all the answers

<p>The lac operon is activated with some suppression. (C)</p> Signup and view all the answers

<p>Manifestations will show a later onset if uncoupled from triggers. (D)</p> Signup and view all the answers

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

<p>It would be classified as a prion. (D)</p> Signup and view all the answers

<p>It may retain normal function if phosphorylated. (C)</p> Signup and view all the answers

<p>Presence of glucose. (B)</p> Signup and view all the answers

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

<p>Both tertiary and quaternary structures. (A)</p> Signup and view all the answers

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

<p>High cAMP levels. (B)</p> Signup and view all the answers

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

<p>It is influenced by the global protein structure. (B)</p> Signup and view all the answers

<p>Correlates with hepatosplenomegaly (B)</p> Signup and view all the answers

<p>Galacitol accumulates, causing toxicity (C)</p> Signup and view all the answers

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

<p>Tissues not using the pathway show no symptoms (A)</p> Signup and view all the answers

<p>Disruption of unrelated metabolic pathways (B)</p> Signup and view all the answers

<p>Increased phenylalanine levels (C)</p> Signup and view all the answers

<p>Branched-chain α-keto acid dehydrogenase (D)</p> Signup and view all the answers

<p>The specific gene affected (C)</p> Signup and view all the answers

<p>Worsening of clinical symptoms (D)</p> Signup and view all the answers

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

<p>Huntington's disease (D)</p> Signup and view all the answers

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

<p>PSEN1 (A)</p> Signup and view all the answers

<p>Greater than 35 repeats increases risk and severity (D)</p> Signup and view all the answers

<p>Inability to breakdown fructose (B)</p> Signup and view all the answers

<p>Interference with folic acid metabolism (D)</p> Signup and view all the answers

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

<p>Fewer long-term consequences (C)</p> Signup and view all the answers

<p>Reduces transcription of trp genes (D)</p> Signup and view all the answers

A pattern of inheritance where only one copy of a mutated gene from either parent is sufficient to cause a disorder.

A pattern of inheritance where two copies of a mutated gene are needed to cause a disorder.

A group of genes in bacteria that are involved in the metabolism of lactose.

A group of genes in bacteria that are involved in the production of tryptophan.

The process of controlling the amount of protein produced from mRNA.

The phenotype is affected by both genetics and environment.

The repressor protein is always bound to the operator, preventing gene expression.

3D shapes of mRNA that affect gene expression.

Lac operon activity will be greatly diminished, due to glucose's preference.

Phenotype may not manifest, or may be mild, if the environment triggers are not present.

The operon is inactive; gene expression is suppressed.

The operon is active; gene expression is enabled.

cAMP binding to the operon promotes gene expression. High glucose levels = low cAMP and operon OFF.

Premature termination of mRNA synthesis, potentially due to improper folding.

Proteins need proper folding to interact and properly function. Missing interaction = missing function.

Misfolded protein that can induce other normal proteins to misfold, making them infectious.

Changes in phosphorylation can affect protein function. The active site can be turned on or off.

Altering amino acids can change protein function. Entirely impossible to phosphorylate=loss of function.

A mutation in the RYR1 gene, associated with congenital myopathies, typically autosomal recessive.

A mutation that creates a premature stop codon in a gene, preventing proper protein synthesis.

A metabolic disorder caused by a deficiency in the enzyme aldolase B, leading to the accumulation of fructose-1-phosphate in the liver, causing damage.

A metabolic disorder due to a deficiency in enzymes involved in galactose metabolism, resulting in galactose accumulation. GALT deficiency is the most severe, leading to galacitol toxicity.

Phenylketonuria: A metabolic disorder caused by a deficiency in phenylalanine hydroxylase, leading to phenylalanine accumulation. The severity can vary.

Maple Syrup Urine Disease: A metabolic disorder caused by a deficiency in branched-chain α-keto acid dehydrogenase, leading to the accumulation of branched-chain amino acids.

The clinical presentation of a metabolic disorder depends on the expression of the affected pathway in different tissues. Tissues that utilize the pathway are more likely to be affected.

A disorder affecting the breakdown of amino acids is likely to cause a buildup of toxic amino acids or disrupt downstream pathways.

A less severe form of PKU, often referred to as 'hyperphenylalaninemia,' where phenylalanine levels are elevated but below the level causing significant symptoms.

Abnormalities in facial features that can be indicative of certain genetic disorders, including metabolic disorders.

Difficulty breathing or respiratory distress that can occur as a symptom of various metabolic disorders.

Enlargement of both the liver and spleen, a common clinical finding associated with certain metabolic disorders.

A condition where phenylalanine levels are elevated, but not due to mutations in the PAH gene, unlike PKU.

Low levels of lactose lead to low lac operon activity, and high trp levels induce formation of the aporepressor, inhibiting transcription.

Lac operon activity is suppressed despite high lactose levels. Glucose is preferred, and high trp creates the aporepressor.

Alzheimer's has varying inheritance patterns. APP, PSEN1, PSEN2 genes are linked to autosomal dominance. APOE-ε4 increases risk and severity.

Huntington's has a repeat expansion in the HTT gene. 27-35 repeats pose risk for offspring, while >35 leads to higher risk and severity.

Neural tube defects like Spina bifida and Myelomeningocele are linked to MTHFR and other genes. Folic acid metabolism plays a crucial role.

Syndactyly, where fingers or toes are fused, is caused by mutations in the HOXD13 gene, likely affecting apoptosis and proper finger development.

A protein that can't achieve its proper 3D shape (fold) will likely be unable to form both tertiary and quaternary structures. Tertiary structure refers to how a single polypeptide chain folds, while quaternary structure describes how multiple polypeptide chains interact. This inability to fold correctly can disrupt its function and prevent it from interacting with other molecules.

A prion or prion-like protein is one that has misfolded and, importantly, can also induce other normal proteins to misfold. This misfolding can spread, ultimately leading to a cascade of misfolded proteins and potential disease.

Phosphorylation is the process of adding a phosphate group to a protein. This can alter the protein's shape and activity, potentially turning it 'on' or 'off'. This is a common way to regulate protein function.

If a protein's amino acid sequence is altered, preventing phosphorylation, it can lose its function. This is because phosphorylation is often essential for the protein to activate and perform its task.

Serine and threonine are often used in phosphorylation because they are recognized by kinases. While this change might be inconsequential, the protein may still retain function if the kinases can phosphorylate threonine as well. However, if this change prevents phosphorylation entirely, the protein may be dysfunctional.

If a variant in the RYR1 gene is present on both copies of the chromosome (biallelic) and is a nonsense mutation (premature stop codon), it likely follows an autosomal recessive inheritance pattern. This means that both parents must carry the variant in order for the child to inherit the disorder.

High levels of tryptophan cause the formation of an aporepressor, which binds to the operator and prevents transcription of the trp operon genes. This reduces the production of tryptophan.

Even though free tryptophan levels are low, the abundance of tryptophan-tRNA molecules leads to ribosome stalling during translation, which activates attenuation and blocks translation of the trp operon genes.

Low lactose levels decrease lac operon activity. Additionally, high tryptophan levels form an aporepressor, which leads to the suppression of transcription.

Even with high lactose levels, the lac operon is suppressed in this scenario. Glucose is preferred as an energy source, and high tryptophan levels lead to the formation of an aporepressor, further inhibiting transcription.

Several genes are linked to Alzheimer's disease, with varying inheritance patterns. APP, PSEN1, and PSEN2 are involved in autosomal dominant inheritance. APOE-ε4 increases risk and severity, particularly when combined with mutations in other genes.