Genetics

Question 1

How many genes in the human genome?

Answer 1

21,000 to 25,000

Question 2

How many pairs of chromosimes does a human have?

Answer 2

23 pairs

Question 3

Which disease is the major burden of genetic disease-based pathology in Australia?

Answer 3

Cystic fibrosis

Question 4

What proportion of new born children in Australia have PKU?

Answer 4

1/14,000

Question 5

What passes through a functional cystic fibrosis transmembrane conduction regulator?

Answer 5

Chloride ions

Question 6

What was the first disease to be routinely tested for at birth and treated as required?

Answer 6

Phenylketonuria (PKU)

Question 7

Which protein is increased as a consequence of PKU?

Answer 7

Phenylpyruvate

Question 8

PKU is a genetic disease of which protein?

Answer 8

Phenylalanine hydroxylase

Question 9

What proportion of new born children in Australia have cystic fibrosis?

Answer 9

2,500

Question 10

On which chromosome is the gene for cystic fibrosis transmembrane conduction regulator?

Answer 10

7

Question 11

What is the most common fatal inherited childhood disorder?

Answer 11

Duchenne muscular dystrophy

Question 12

What pattern of inheritance does Duchenne muscular dystrophy show?

Answer 12

X-linked reccessive

Question 13

What pattern of inheritance does Becker muscular dystrophy show?

Answer 13

X-linked recessive