AQA
A-Level
BIOLOGY
3.4 Genetics, Biodiversity and Classification
4.1 | DNA, Genes and Chromosomes
Time allowed
52 minutes
QUESTION PAPER
Score Percentage
/43 %
4.1 | CELL BIOLOGY | QUESTION PAPER 1 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.
(a) 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.
Amish population .....................................
(1)
(b) 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.
(i) Suggest how a mutation can lead to the production of a protein that has one
amino acid missing.
............................................................................................................... (2)
...............................................................................................................
(ii) Suggest how the production of a protein with one amino acid missing may lead
to a genetic disorder such as Ellis-van Creveld syndrome.
...............................................................................................................
...............................................................................................................
...............................................................................................................
(2)
(Total 5 marks)
A-Level
BIOLOGY
3.4 Genetics, Biodiversity and Classification
4.1 | DNA, Genes and Chromosomes
Time allowed
52 minutes
QUESTION PAPER
Score Percentage
/43 %
4.1 | CELL BIOLOGY | QUESTION PAPER 1 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.
(a) 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.
Amish population .....................................
(1)
(b) 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.
(i) Suggest how a mutation can lead to the production of a protein that has one
amino acid missing.
............................................................................................................... (2)
...............................................................................................................
(ii) Suggest how the production of a protein with one amino acid missing may lead
to a genetic disorder such as Ellis-van Creveld syndrome.
...............................................................................................................
...............................................................................................................
...............................................................................................................
(2)
(Total 5 marks)
