Podcast
Questions and Answers
Quale del sequente es un exemplo de un maladia causate per un expansion de repetition de trinucleotide?
Quale del sequente es un exemplo de un maladia causate per un expansion de repetition de trinucleotide?
Le expansion de repetition de trinucleotide pote causar un mutation in un gen.
Le expansion de repetition de trinucleotide pote causar un mutation in un gen.
True (A)
Que es le nom del trinucleotide que es expandente in le maladia de Huntington?
Que es le nom del trinucleotide que es expandente in le maladia de Huntington?
CAG
Le expansion de repetition de trinucleotide pote resultar in le production de un proteina ______.
Le expansion de repetition de trinucleotide pote resultar in le production de un proteina ______.
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Compara le sequente maladias con lor trinucleotide respectiv:
Compara le sequente maladias con lor trinucleotide respectiv:
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Quale del sequente es un factor de risco pro le expansion de repetition de trinucleotide?
Quale del sequente es un factor de risco pro le expansion de repetition de trinucleotide?
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Le expansion de repetition de trinucleotide es un mutation somatic.
Le expansion de repetition de trinucleotide es un mutation somatic.
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Que es le mechanismos per le expansion de repetition de trinucleotide?
Que es le mechanismos per le expansion de repetition de trinucleotide?
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Flashcards
Maladie de répétition de trinucleotide
Maladie de répétition de trinucleotide
Une pathologie génétique causée par l'expansion de séquences de trinucleotides dans le génome.
Expansion de répétition
Expansion de répétition
Augmentation anormale du nombre de répétitions d'une séquence trinucleotide.
Trinucleotides
Trinucleotides
Unités de trois nucléotides, les éléments de base de l'ADN.
Génétique
Génétique
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Pathologie
Pathologie
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Séquence ADN
Séquence ADN
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Hérédité
Hérédité
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Mutation génétique
Mutation génétique
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Study Notes
Trinucleotide Repeat Expansion Diseases
- These are a group of genetic disorders arising from mutations characterized by an increased number of three-base-pair repeats (e.g., C, G nucleotides) at specific locations in genes.
- The mechanism of these diseases often involves either a loss-of-function effect, where the gene's normal function is diminished, or a gain-of-function effect, where the gene produces an altered protein with toxic impacts.
Fragile X Syndrome
- This is an X-linked genetic disease causing intellectual disability and characteristic physical features.
- It arises from an inherited defect in the 5' untranslated region of the FMR1 gene.
- This defect leads to an abnormal expansion of trinucleotide repeats within the gene and subsequent methylation, significantly reducing the production of the FMR1 protein.
- This results in distinctive behavioral and physical characteristics, such as intellectual disability, a long face, large ears, and macroorchidism in males.
- Anticipation, meaning the severity and age of onset of the disease often worsen in succeeding generations, is a key issue in fragile X syndrome.
Huntington's Disease
- This is an autosomal dominant neurodegenerative disorder often presenting with involuntary movements (chorea), alongside dementia.
- It involves an excessive expansion of CAG trinucleotide repeats within the HTT gene.
- This repeat expansion results in a protein with an abnormally elevated number of glutamine amino acids (elongated polyglutamine tract), leading to abnormal aggregation and cellular dysfunction in the brain.
- Increased repeat numbers correlate with an earlier age of onset and greater severity of the disease.
- The disease progressively impacts motor control, cognitive abilities, and psychiatric well-being.
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Description
Este quiz explora las enfermedades geneticas causadas por la expansion de repeticiones de trinucleotidos, incluyendo el Sindrome de Fragile X. Aprende sobre los mecanismos de estos trastornos y sus efectos en la funcion del gen. Evalua tu entendimiento de la genetica y sus implicaciones clinicas.
