Lecture 15 Quiz
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Questions and Answers

Which enzyme is deficient in Fabry disease?

  • Beta-galactosidase
  • Beta-glucosidase
  • Alpha-glucosidase
  • Alpha-galactosidase (correct)

What is the primary site of accumulation in Fabry disease?

  • Lungs
  • Kidney (correct)
  • Brain
  • Liver

What are the main causes of premature death in Fabry disease?

  • Respiratory failure and liver dysfunction
  • Renal failure, cardiac issues, and cerebrovascular disease (correct)
  • Endocrine dysfunction and musculoskeletal disorders
  • Neurological disorders and gastrointestinal complications

Which gender is more likely to be affected by Fabry disease?

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

What is the mutated gene in Fabry disease?

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

What is the most accurate method for diagnosing female carriers of Fabry disease?

<p>DNA mutation analysis (B)</p> Signup and view all the answers

What is the cause of Fragile X syndrome?

<p>Increase in CGG repeats (A)</p> Signup and view all the answers

Which of the following is a common physical feature associated with Fragile X Syndrome?

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

What is the specific location of the Fragile X Syndrome gene on the X chromosome?

<p>Xq27.3 (C)</p> Signup and view all the answers

What is the term used to describe the expansion of CGG repeats in the FMR1 gene in Fragile X Syndrome?

<p>Triplet repeat expansion (C)</p> Signup and view all the answers

What is the normal range of CGG repeats in the 5' UTR region of the FMR1 gene?

<p>30-50 repeats (C)</p> Signup and view all the answers

When does the expansion of CGG repeats occur in Fragile X Syndrome?

<p>During maternal transmission (A)</p> Signup and view all the answers

How many triplet repeat diseases have been identified?

<p>16 (D)</p> Signup and view all the answers

What causes triplet expansion in DNA replication?

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

Flashcards

Fabry Disease

A genetic disorder caused by a deficiency in the enzyme alpha-galactosidase. This deficiency leads to the accumulation of a specific type of fat called globotriaosylceramide (Gb3) in various organs.

Alpha-galactosidase

An enzyme responsible for breaking down a specific type of fat called globotriaosylceramide (Gb3). A deficiency in this enzyme is the underlying cause of Fabry disease.

Kidney

The primary site of accumulation of the fatty substance Gb3 in Fabry disease. This accumulation can lead to kidney failure, a common cause of death in the disease.

Males

Males are more likely to inherit and display symptoms of Fabry disease because it is an X-linked recessive disorder.

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GLA Gene

The gene responsible for producing the alpha-galactosidase enzyme, which is deficient in Fabry disease.

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DNA Mutation Analysis

A genetic analysis technique used to detect mutations in the GLA gene, especially useful for identifying female carriers of Fabry disease.

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Fragile X Syndrome

A genetic disorder caused by an expansion of CGG repeats in the FMR1 gene on the X chromosome. This leads to a deficiency in a protein essential for brain development.

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Xq27.3

The specific location of the FMR1 gene on the X chromosome, where the CGG repeat expansion occurs in Fragile X Syndrome.

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Flat Feet

A common physical feature associated with Fragile X Syndrome. This feature is related to the underlying neurological issues.

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Triplet Repeat Expansion

The expansion of CGG repeats in the FMR1 gene is the underlying cause of Fragile X Syndrome. This expansion leads to a deficiency in the FMRP protein.

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30-50 Repeats

The normal range of CGG repeats in the 5' UTR region of the FMR1 gene. An expansion beyond this range leads to Fragile X Syndrome.

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Maternal Transmission

The process by which the CGG repeats in the FMR1 gene expand during the transmission of the gene from mother to child. The repeats tend to increase in length over generations.

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Triplet Repeat Diseases

A group of genetic disorders caused by the expansion of short, repetitive DNA sequences, such as the CGG repeats in Fragile X Syndrome.

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Slippage

The process by which the expansion of CGG repeats occurs during DNA replication. This can happen when the DNA polymerase 'slips' and adds extra repeats.

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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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Genetics Lecture 15

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