Genetics

Question 1

What does a shaded in box in a family tree indicate?

Answer 1

Person is affected with specific disease

Question 2

What is an autosomal dominant disorder?
Give 1 example

Answer 2

One faulty gene is enough to give the disorder (2 genes in complete set)
Myotonic dystrophy

Question 3

What is an autosomal recessive disorder?
Give 1 example.

Answer 3

Need 2 faulty genes (complete set) to have the disorder
Both parents would need to be carriers (heterozygotes) i.e. have one autosomal recessive gene (not enough for the disease to be expressed)
Cystic Fibrosis

Question 4

How many chromosomes does a human have?

Answer 4

46 (23 pairs)

Question 5

What is a mitochondrial chromosome?

Answer 5

Much smaller than DNA
Circular (others are linear)
No introns
Genome- gets passed on from mum always
Multiple copies in each cell

Question 6

What is aspirate pneumonia?

Answer 6

Fluid inhaled into lungs

Question 7

Who does an X linked recessive disorder affect?

Answer 7

Only males

Question 8

What genes are causative to ectodermal dysplasia?

Answer 8

70% X linked recessive
15% AD or AR
5% AR
10% unknown