Diseases - Part 1

Question 1

Which gene carries the mutation in Myotonic dystrophy?

Answer 1

DMPK gene

Question 2

What are the characteristics of Mytonic Dystrophy?

Answer 2

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

Question 3

Achondroplasia is a mutation in what gene?

Answer 3

FGFR3 mutation

Question 4

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

Answer 4

Transmembrane receptor involved in differentiation of cartilage to bone

Question 5

Mutations of the FGFR3 gene results in what physical characteristic?

Answer 5

Severe stunting of growth

Question 6

Mutations in what gene cause Neurofibromatosis (NF1)?

Answer 6

Neurofibromin (NF-1) gene

Question 7

Neurofibromin gene codes for what?

Answer 7

a Tumor suppressor protein

Question 8

What are some characteristic features in patients with Neurofibromatosis?

Answer 8

• 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

Question 9

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

Answer 9

1 allele of the alpha1 gene

Question 10

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

Answer 10

Degradation of 75% of collagen.