Gene Function - Clinic

Question 1

What percentage of all breast cancers do BRCA1 and BRCA2 account for?

Answer 1

5-10%

Question 2

What is treacher collins syndrome?

Answer 2

a rare autosomal dominant condition characterised by cranio-facial deformities e.g. missing cheekbones.

Occurs in 1 in 50,000 births

Question 3

How would we male a prenatal diagnosis of treacher collins syndrome?

Answer 3

• amniocentesis

- chronic villus sampling

Question 4

How can we make a pre-implantation diagnosis for huntington’s disease?

Answer 4

Non-disclosure testing

Question 5

What is the basis behind leptin replacement therapy?

Answer 5

Leptin is a hormone released by fat cells which tells us to stop eating and to increase physical activity in order to reduce fat.

Some people have inherited Leptin deficiency leading to obesity.

Leptin replacement therapy in obese people helps them to maintain a healthy weight.

Question 6

What is gene therapy/

Answer 6

the use of genetic material either DNA or RNA as medicine

Question 7

What is Leber’s Congenital amaurosis (LCA)?

Answer 7

LCA is a recessively inherited eye disorder. Causes blindness at birth / infancy .

Question 8

What is the role of cytochrome P450 Oxidases?

Answer 8

Cytochrome P450 Oxidases are enzymes found in the liver that are responsible for the metabolic elimination of most drugs. Also needed for converting pro-drugs into their active forms.

Question 9

What is the consequence of abnormal CYP2D6?

Answer 9

CYP2D6 is a member of to the cytochrome P450 family. It metabolises 25% of drugs.

Abnormal CYP2D6 leads to poor metabolism of drugs.