Week 2 - Mendel and Beyond - Thursday 13th October

Question 1

Define ‘Autosomal dominant inheritance’.

Answer 1

One copy of this gene that is passed from the parent to child has the has 50% chance of inheriting the disease.

Question 2

Define ‘Autosomal recessive inheritance’.

Answer 2

Occurs when the child inherits the mutated gene, one from each parent. The parents of a child who have the condition usually do not have it.

Question 3

Define ‘X-Linked recessive’.

Answer 3

These diseases most often occur in males as they only possess one X chromosome. A single recessive gene on that X-chromosome will cause the disease.

Question 4

What is the Grantham Score?

Answer 4

The Grantham Score is the effect of substitutions of amino acids based on chemical properties, including polarity and molecular volume.
* Conservative (0 - 50)
* Moderately conservative (51 - 100)
* Moderately radical (101 - 150)
* Radical (151 or greater)

Question 5

What is ‘allelic heterogeneity’?

Answer 5

Allelic heterogeneity occurs when different variants at a single gene locus cause the same or similar phenotypic expressions of a disease or condition eg. cystic fibrosis