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Flashcards in Genetics Deck (13):
1

How many genes in the human genome?

21,000 to 25,000

2

How many pairs of chromosimes does a human have?

23 pairs

3

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

Cystic fibrosis

4

What proportion of new born children in Australia have PKU?

1/14,000

5

What passes through a functional cystic fibrosis transmembrane conduction regulator?

Chloride ions

6

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

Phenylketonuria (PKU)

7

Which protein is increased as a consequence of PKU?

Phenylpyruvate

8

PKU is a genetic disease of which protein?

Phenylalanine hydroxylase

9

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

2,500

10

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

7

11

What is the most common fatal inherited childhood disorder?

Duchenne muscular dystrophy

12

What pattern of inheritance does Duchenne muscular dystrophy show?

X-linked reccessive

13

What pattern of inheritance does Becker muscular dystrophy show?

X-linked recessive