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If the pathogenicity is inherited in an autosomal dominant manner, what are the possible genotypes of the parents?
If the pathogenicity is inherited in an autosomal dominant manner, what are the possible genotypes of the parents?
If the pathogenicity is inherited in an autosomal recessive manner, what are the possible genotypes of the parents?
If the pathogenicity is inherited in an autosomal recessive manner, what are the possible genotypes of the parents?
If the pathogenicity is inherited in an autosomal recessive manner, what is the genotype of the offspring if both parents are affected?
If the pathogenicity is inherited in an autosomal recessive manner, what is the genotype of the offspring if both parents are affected?
What would you expect for manifestation of a genetic disorder if disease phenotype is influenced by environment and no environmental triggers are present?
What would you expect for manifestation of a genetic disorder if disease phenotype is influenced by environment and no environmental triggers are present?
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What would you expect for manifestation of a genetic disorder if the environmental trigger merely increases severity?
What would you expect for manifestation of a genetic disorder if the environmental trigger merely increases severity?
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What is the role of mRNA higher order structures in regulation?
What is the role of mRNA higher order structures in regulation?
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High levels of glucose are available in the environment along with high levels of lactose. What is the most likely consequence for the Lac operon in terms of relative activity?
High levels of glucose are available in the environment along with high levels of lactose. What is the most likely consequence for the Lac operon in terms of relative activity?
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What is the expected consequence in terms of gene expression for the constitutive binding of repressor to operator?
What is the expected consequence in terms of gene expression for the constitutive binding of repressor to operator?
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What is the expected consequence in terms of gene expression for the constitutive binding of cAMP to operon?
What is the expected consequence in terms of gene expression for the constitutive binding of cAMP to operon?
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A change in sequence prevents mRNA folding. If folding was necessary to enable full transcription of the mRNA, what is the consequence in terms of functional product?
A change in sequence prevents mRNA folding. If folding was necessary to enable full transcription of the mRNA, what is the consequence in terms of functional product?
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Presence of GLUCOSE shuts OFF operon because GLUCOSE is a preferred fuel of glucose metabolism.
Presence of GLUCOSE shuts OFF operon because GLUCOSE is a preferred fuel of glucose metabolism.
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When lots of glucose metabolism = low cAMP and lac operon is OFF (even in absence of repressor).
When lots of glucose metabolism = low cAMP and lac operon is OFF (even in absence of repressor).
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When glucose metabolism is absent = high cAMP and lac operon can be ON (unless repressor is present).
When glucose metabolism is absent = high cAMP and lac operon can be ON (unless repressor is present).
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A protein that does not spontaneously fold and is no longer capable of interacting with folding machinery would not be capable of what level(s) of protein structure?
A protein that does not spontaneously fold and is no longer capable of interacting with folding machinery would not be capable of what level(s) of protein structure?
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A structurally abnormal protein that is capable of inducing altered structure of normal protein variants would be classified as what and would most likely cause what?
A structurally abnormal protein that is capable of inducing altered structure of normal protein variants would be classified as what and would most likely cause what?
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A pathogenic variant in the RYR1 gene is observed. What condition is this associated with?
A pathogenic variant in the RYR1 gene is observed. What condition is this associated with?
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A pathogenic variant in the RYR1 gene is observed. If this variant is a biallelic change that causes a nonsense mutation, which inheritance pattern is expected?
A pathogenic variant in the RYR1 gene is observed. If this variant is a biallelic change that causes a nonsense mutation, which inheritance pattern is expected?
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A pathogenic variant in the RYR1 gene is observed. Severe forms of this mutation are linked with which clinical features in addition to the myopathy?
A pathogenic variant in the RYR1 gene is observed. Severe forms of this mutation are linked with which clinical features in addition to the myopathy?
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What is the relationship between metabolic disorders and clinical presentation based on tissues?
What is the relationship between metabolic disorders and clinical presentation based on tissues?
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A disorder that affects catabolic breakdown of amino acids is most likely to result in what?
A disorder that affects catabolic breakdown of amino acids is most likely to result in what?
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Milder PKU could also be thought of as what?
Milder PKU could also be thought of as what?
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Match the following metabolic disorders with the genes implicated:
Match the following metabolic disorders with the genes implicated:
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Which operon example is turned on when needed?
Which operon example is turned on when needed?
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Which operon example also has significant translational regulation?
Which operon example also has significant translational regulation?
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Translational regulation in eukaryotes can be thought of as a method that affects the level of translation and/or what else?
Translational regulation in eukaryotes can be thought of as a method that affects the level of translation and/or what else?
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Match the following conditions with the genes implicated:
Match the following conditions with the genes implicated:
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What is the most common change associated with central core myopathy?
What is the most common change associated with central core myopathy?
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What is the most common change associated with nemaline myopathy?
What is the most common change associated with nemaline myopathy?
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What is the most common change associated with centronuclear myopathy?
What is the most common change associated with centronuclear myopathy?
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What is the most common change associated with myotubular myopathy?
What is the most common change associated with myotubular myopathy?
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What is the most common change associated with myosin storage myopathy?
What is the most common change associated with myosin storage myopathy?
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Match the following genetic disorders with their associated genes:
Match the following genetic disorders with their associated genes:
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Study Notes
Autosomal Inheritance
- If a pathogenic variant is autosomal dominant, possible parental genotypes are AA or Aa (at least one)
- If a pathogenic variant is autosomal recessive, possible parental genotypes are aa or Aa. Affected parents MUST be aa.
Pedigree Analysis
- Pedigree should include the individual as male, and neither parent is affected.
- Three siblings: male with trait, male without trait, female without trait.
- Maternal grandfather had the trait, but maternal grandmother did not.
- Neither paternal grandparent was affected.
- One additional child also did not have the trait.
- Condition is likely recessive.
- Discrepancy between male and female manifestation suggests X-linked inheritance, though more data is needed.
Environmental Influence on Disease Manifestation
- Disease phenotype can be influenced by environment, with or without environmental triggers.
- No phenotype present without the trigger, or very mild presentation.
- Trigger increases severity (e.g., XP tumor presentation), leading to delayed onset or less severe phenotypes compared to those exposed.
Operon Regulation
- Lac Operon: Turned on when needed.
- Trp Operon: Has significant translational regulation.
mRNA Regulation in Eukaryotes
- Regulation affects the level of translation or location.
- mRNA higher-order structures (folding or 3D conformation) impact access of both transcriptional and translational machinery.
Operon Regulation - Consequences of Changes
- Constitutive binding of repressor to operator: Operon OFF.
- Constitutive binding of cAMP to operon: Operon ON (cAMP can promote operon).
- Changes in mRNA sequence that prevent folding can result in shortened transcripts or lower transcription levels, reducing functional product.
Protein Misfolding and Prion-like Proteins
- Proteins that fail to spontaneously fold and interact with folding machinery lose tertiary and quaternary structure.
- Structurally abnormal proteins that alter the structure of other normal proteins are classified as prions and can act as infectious agents.
Protein Phosphorylation and Genetic Variants
- Changing serine sites to threonine in a protein's sequence affects kinase activity.
- It might preserve function if other factors remain constant.
- If it disables phosphorylation, it can lead to a loss of function.
RYR1 Gene Variant
- Pathogenic variant in RYR1 gene is associated with congenital myopathies (specifically central core myopathies).
- Biallelic nonsense mutations in the RYR1 gene indicate autosomal recessive inheritance.
- Severe mutations are linked to facial dysmorphisms and severe respiratory involvement.
Metabolic Disorders and Clinical Presentation
- Clinical presentation of metabolic disorders reflects tissue-specific pathway expression with corresponding tissue impact levels.
- Disorders affecting amino acid catabolism lead to toxic buildup of amino acids, potentially disrupting downstream pathways.
- Milder PKU is also classified as non-PKU hyperphenylalaninemia.
Gene Expression and Lac/Trp Operon Activity
- Lac Operon: Operon activity depends on high lactose/low glucose leading to cAMP stimulation and decreased repressor binding.
- Trp Operon: High tryptophan leads to aporepressor formation, blocking transcription/reducing transcription.
Diseases Associated with Genes
- Alzheimer's Disease: Genes like APP, PSEN1, PSEN2, and APOE are correlated with autosomal dominant inheritance, with APOE-ɛ4 variant increasing disease severity.
- Wolfram Syndrome: Autosomal recessive inheritance; presentation is DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).
- Huntington's Disease: HTT expansion (CAG repeats) correlates with severity, where more repeats mean higher probability and severity.
- Spina Bifida and Myelomeningocele/Syndactyly: Neural tube closure during development relates to Folic acid metabolism and multiple genes, highlighting the importance of development and/or loss in apoptosis for structure.
- Congenital Myopathies: Associated with varied inheritance patterns (Autosomal dominant/recessive/X-linked) and diverse gene mutations (RYR1, ACTA1, etc).
Other Diseases and Associated Genes (Page 8/9)
- Asthma and COPD: COX-2 gene is linked to inflammation and mutations.
- Male Infertility: AZF regions and DAZ genes relate to gametogenesis issues.
- Metabolic Syndrome: Genes (LDLR, TGF-β, IL-6, SELE) are associated with insulin signaling and combined disease risk.
- Marfan Syndrome: FBN-1 gene (and potential TGF-β implications) impact cardiovascular risk.
Cancer Hallmarks
- Hallmark of Cancer: Diverse aspects of cancer development and evolution are described.
- Specific Hallmark Examples: Evading apoptosis, self-sufficiency in growth signaling, insensitivity to anti-growth signaling, sustained angiogenesis, limitless replicative potential, tissue invasion and metastases, deregulation of cellular energetics, genomic instability, avoiding immune destruction, tumor-promoting inflammation, cellular regression/de-differentiation are key aspects of cancerous development described to understand and control cancer.
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Description
This quiz explores the concepts of autosomal inheritance, including dominant and recessive traits, through pedigree analysis. Test your understanding of how genetic conditions can be inherited and the role of environmental factors in disease manifestation.
