DNA, Genes and Chromosomes ( Genetic Diversity Via Mutation, DNA And Protein Synthesis )

Question 1

The Amish are a group of people who live in America.
This group was founded by 30 Swiss people, who moved to America many years ago.
The Amish do not usually marry people from outside their own group.

One of the 30 Swiss founders had a genetic disorder called Ellis-van Creveld syndrome.
People with this disorder have heart defects, are short and have extra fingers and toes.
Ellis-van Creveld syndrome is caused by a faulty allele.

In America today, about 1 in 200 Amish people are born with Ellis-van Creveld syndrome.
This disorder is very rare in people in America who are not Amish.

In America today, there are approximately 1250 Amish people who have Ellis-van
Creveld syndrome.
Use the information provided to calculate the current Amish population of America.

Answer 1

• 250 000

Question 2

The faulty allele that causes Ellis-van Creveld syndrome is the result of a mutation of a gene called EVC.
This mutation leads to the production of a protein that has one amino acid missing.

Suggest how a mutation can lead to the production of a protein that has one
amino acid missing.

Answer 2

• Loss of three bases

Question 3

Suggest how the production of a protein with one amino acid missing may lead to a genetic disorder such as Ellis-van Creveld syndrome.

Answer 3

• Change in tertiary structure

- So faulty protein