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Questions and Answers
Which enzyme is deficient in Fabry disease?
Which enzyme is deficient in Fabry disease?
What is the primary site of accumulation in Fabry disease?
What is the primary site of accumulation in Fabry disease?
What are the main causes of premature death in Fabry disease?
What are the main causes of premature death in Fabry disease?
Which gender is more likely to be affected by Fabry disease?
Which gender is more likely to be affected by Fabry disease?
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What is the mutated gene in Fabry disease?
What is the mutated gene in Fabry disease?
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What is the most accurate method for diagnosing female carriers of Fabry disease?
What is the most accurate method for diagnosing female carriers of Fabry disease?
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What is the cause of Fragile X syndrome?
What is the cause of Fragile X syndrome?
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Which of the following is a common physical feature associated with Fragile X Syndrome?
Which of the following is a common physical feature associated with Fragile X Syndrome?
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What is the specific location of the Fragile X Syndrome gene on the X chromosome?
What is the specific location of the Fragile X Syndrome gene on the X chromosome?
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What is the term used to describe the expansion of CGG repeats in the FMR1 gene in Fragile X Syndrome?
What is the term used to describe the expansion of CGG repeats in the FMR1 gene in Fragile X Syndrome?
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What is the normal range of CGG repeats in the 5' UTR region of the FMR1 gene?
What is the normal range of CGG repeats in the 5' UTR region of the FMR1 gene?
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When does the expansion of CGG repeats occur in Fragile X Syndrome?
When does the expansion of CGG repeats occur in Fragile X Syndrome?
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How many triplet repeat diseases have been identified?
How many triplet repeat diseases have been identified?
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What causes triplet expansion in DNA replication?
What causes triplet expansion in DNA replication?
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Study Notes
Fabry Disease
- Enzyme deficiency: Alpha-galactosidase A
- Primary site of accumulation: Lysosomes
- Premature death causes: Cardiovascular disease, stroke, kidney failure
- Gender: Males are more severely affected, females are carriers
- Mutated gene: GLA gene
- Diagnosis in female carriers: Genetic testing for mutations and enzyme activity testing
Fragile X Syndrome
- Cause: Expansion of CGG repeats in the FMR1 gene
- Physical feature: Large ears, a long face, prominent forehead, macroorchidism (enlarged testes)
- Gene location: X chromosome
- Expansion term: Allelic expansion
- Normal CGG repeat range: 5-44 repeats
- Expansion occurrence: During female gametogenesis (egg formation)
- Triplet repeat diseases: Over 40
- Triplet expansion cause: Slippage during DNA replication
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Description
Genetics Lecture 15
