L19 Molecular Biology of the Gene and Gene Expression 2

Question 1

Mutation in the DMD gene causes what disease?

Answer 1

Duchene Muscular Dystrophy

Question 2

Mutation in the SMN1 gene causes what disease?

Answer 2

Spinal Muscular Atrophy

Question 3

Mutation in the CFTR gene causes what disease?

Answer 3

Cystic Fibrosis

Question 4

Mutation in the BMPR2 gene causes what disease?

Answer 4

Pulmonary Arterial Hypertension

Question 5

Mutation in the BRCA1 and BRCA2 gene causes what disease?

Answer 5

Breast Cancer

Question 6

What is haploinsufficiency?

Answer 6

Where one copy of the gene is mutated, and the normal copy is not enough on its own.

Question 7

What is dominant mutation?

Answer 7

Where a change in the gene sequence dominates the wild-type and results in a change in the protein.

Question 8

How does a splicing error produce cystic fibrosis?

Answer 8

A mutation in the 7th exon of SMN1 gene results in this exon being skipped. The protein produced is non-functional.

Question 9

How do you do gel electrophoresis?

Answer 9

Load sample into prepared tray of agarose gel. Run current through – DNA will migrate from negative to positive (like Pitbull’s life) and you can detect it somehow.

Question 10

Can you make DNA’s, RNA’s and proteins in a tube?

Answer 10

Yes