Diseases - Part 1 Flashcards Preview

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Flashcards in Diseases - Part 1 Deck (10):
1

Which gene carries the mutation in Myotonic dystrophy?

DMPK gene

2

What are the characteristics of Mytonic Dystrophy?

- Wasting of the muscles
- Cataracts
- Heart conduction defects
- Endocrine changes
- Myotonia

3

Achondroplasia is a mutation in what gene?

FGFR3 mutation

4

What does FGFR3, the gene implicated in Achondroplasia, code for?

Transmembrane receptor involved in differentiation of cartilage to bone

5

Mutations of the FGFR3 gene results in what physical characteristic?

Severe stunting of growth

6

Mutations in what gene cause Neurofibromatosis (NF1)?

Neurofibromin (NF-1) gene

7

Neurofibromin gene codes for what?

a Tumor suppressor protein

8

What are some characteristic features in patients with Neurofibromatosis?

• Café-au-lait spots
• Neurofibromas: swellings on the skin
• Lisch nodules in the iris of the eye
• NF-1 is a classic example of a disease which exhibits variable expressivity

9

For the dominant negative model of Osteogenesis Imperfecta, where is the mutation?

1 allele of the alpha1 gene

10

What is the phenotypic result of a mutation in the alpha1 gene in Osteogenesis Imperfecta?

Degradation of 75% of collagen.