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Genetic Disorders: Colour Blindness & Cystic Fibrosis

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11 views18 pages

Genetic Disorders: Colour Blindness & Cystic Fibrosis

Uploaded by

xsam698
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

1

1 Colour blindness can be caused by a mutation in a gene. The gene is located on the X chromosome.

The pedigree diagram is for a family which has several people who are colour-blind.

Colour blindness is sex-linked.

State the genotype of person 5.

Use the symbols X and Y for the sex chromosomes and A for the dominant allele and a for the
recessive allele of the gene for colour blindness.

.................................................................................................................................................. [2]

[Total: 2]
2

2 Colour blindness can be caused by a mutation in a gene. The gene is located on the X chromosome.

The pedigree diagram is for a family which has several people who are colour-blind.

Colour blindness is sex-linked.

State the evidence from the pedigree diagram that supports the idea that colour blindness is
sex-linked.

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [1]

[Total: 1]
3

3 CFTR proteins in the cells lining the pancreatic duct move chloride ions out of the cells into the
duct.

If CFTR proteins do not move chloride ions, the liquid in the pancreatic duct becomes very sticky
and the duct can become blocked.

Blocked pancreatic ducts are one effect of cystic fibrosis, which is an inherited disease. Cystic
fibrosis is caused by a mutation of the gene that codes for the CFTR protein.

The diagram shows the pedigree diagram of a family that has two people who have cystic fibrosis.

The allele that causes cystic fibrosis is a recessive allele.

Describe and explain the evidence shown in the pedigree diagram that cystic fibrosis is caused by
a recessive allele.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [2]

[Total: 2]
4

4 CFTR proteins in the cells lining the pancreatic duct move chloride ions out of the cells into the
duct.

If CFTR proteins do not move chloride ions, the liquid in the pancreatic duct becomes very sticky
and the duct can become blocked.

Blocked pancreatic ducts are one effect of cystic fibrosis, which is an inherited disease. Cystic
fibrosis is caused by a mutation of the gene that codes for the CFTR protein.

The diagram shows the pedigree diagram of a family that has two people who have cystic fibrosis.
5

Person 7 is expecting a child with a man who is heterozygous for cystic fibrosis.

Complete the genetic diagram to predict the probability of person 7 and the heterozygous man
having a child with cystic fibrosis.

Use the symbol A for the dominant allele and a for the recessive allele.

genotypes of offspring ..............................................................................................................

phenotypes of offspring ............................................................................................................

probability of having a child with cystic fibrosis ........................................................................ [5]

[Total: 5]
6

5 Colour blindness can be caused by a mutation in a gene. The gene is located on the X chromosome.

The pedigree diagram is for a family which has several people who are colour-blind.
7

Colour blindness is sex-linked.

Use the information in the pedigree diagram to complete the genetic diagram to show the probability
of person 3 and person 4 having another child with colour blindness.

offspring
genotypes ..........................................................................................................................

offspring
phenotypes ........................................................................................................................

probability of a child having colour blindness .................................................................... [5]

[Total: 5]
8

6 Enzymes are proteins.

The diagram shows the stages involved in protein synthesis.

A – codes for a protein


DNA

stage 1

nuclear membrane

DNA

stage 2

nuclear membrane

stage 3 B

C
9

Describe the events that occur during stage 2 in the diagram.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [2]

[Total: 2]
10

7 Enzymes are proteins.

The diagram shows the stages involved in protein synthesis.

A – codes for a protein


DNA

stage 1

nuclear membrane

DNA

stage 2

nuclear membrane

stage 3 B

C
11

State what determines the order in which the parts labelled B are assembled.

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [1]

[Total: 1]
12

8 Enzymes are proteins.

The diagram shows the stages involved in protein synthesis.

A – codes for a protein


DNA

stage 1

nuclear membrane

DNA

stage 2

nuclear membrane

stage 3 B

C
13

State the name of the parts represented by the letters A and C in the diagram.

A ..............................................................................................................................................

C .............................................................................................................................................. [2]

[Total: 2]

9 There are four blood groups in the ABO system in humans: A, B, AB and O.
A B o
The gene that determines blood group has three alleles: I , I and I .
A o B o
Parents with the genotypes I I and I I are planning to have more children.

Complete the genetic diagram to determine the probability that the next child will have blood
group O.

parental blood groups A B


A o B o
parental genotypes I I I I

Punnett square

phenotypes of the children .......................................................................................................

probability that the child will have blood group O ..................................................................... [4]

[Total: 4]
14

10 There are four blood groups in the ABO system in humans: A, B, AB and O.
A B o
The gene that determines blood group has three alleles: I , I and I .

Explain why the ABO blood group system is an example of co-dominance.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [2]

[Total: 2]
15

11 The American writer Ernest Hemingway lived on the island of Key West in Florida, USA in the
1930s. During this time he was given a male cat by a sea captain.

The cat had more toes than usual. This inherited condition is called polydactyly. The allele for
polydactyly is dominant.

Here is part of a pedigree diagram for Hemingway’s cats.

State the genotypes of cats 5, 6 and 14 in the pedigree diagram.

Use the letters T and t.

cat 5 .........................................................................................................................................

cat 6..........................................................................................................................................

cat 14........................................................................................................................................ [3]

[Total: 3]
16

12 The American writer Ernest Hemingway lived on the island of Key West in Florida, USA in the
1930s. During this time he was given a male cat by a sea captain.

The cat had more toes than usual. This inherited condition is called polydactyly. The allele for
polydactyly is dominant.

Scientists published the results of an investigation into the DNA of cats with and without polydactyly.
They compared the base sequence from a particular region of DNA that controls the development
of the limbs.

The table shows the base sequences.

cats without polydactyly AGA CAC AGA AAT GAG

Hemingway’s cats with polydactyly AGA CAC GGA AAT GAG

cats with polydactyly from Oregon and Missouri in the USA AGA CAC GGA AAT GAG

cats with polydactyly from the UK AGA CAC AGT AAT GAG

The base sequences in the table provide evidence that indicates which country the male cat given
to Hemingway in the 1930s came from.

Suggest which country this cat came from and give a reason for your choice.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [2]

[Total: 2]

13 The American writer Ernest Hemingway lived on the island of Key West in Florida, USA in the
1930s. During this time he was given a male cat by a sea captain.

The cat had more toes than usual. This inherited condition is called polydactyly. The allele for
polydactyly is dominant.

Define the term inheritance.

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [1]

[Total: 1]
17

14 Colour blindness is a characteristic that is inherited. Colour blindness is more common in males
than in females.

Here is a pedigree diagram showing the inheritance of colour blindness in a family.

There was no history of colour blindness in the parents and grandparents of individuals 1 and 2.

Suggest how colour blindness first occurred in the family in the pedigree diagram.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [2]

[Total: 2]
18

15 Colour blindness is a characteristic that is inherited. Colour blindness is more common in males
than in females.

Here is a pedigree diagram showing the inheritance of colour blindness in a family.

Individual 3 is a carrier of colour blindness because she has one copy of the allele for
colour blindness but has normal colour vision.

Describe the evidence from the pedigree diagram that shows that individual 3 is a carrier.

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

..................................................................................................................................................

.................................................................................................................................................. [3]

[Total: 3]

Common questions

Powered by AI

Colour blindness is sex-linked and located on the X chromosome. Males have only one X chromosome, so a single recessive allele on that chromosome will result in colour blindness. Females must inherit two recessive alleles to exhibit the trait, making it statistically less common for females .

In protein synthesis, the nuclear membrane delineates and protects the DNA, serving as a barrier between transcription and translation phases. During mRNA processing, it regulates the export of processed mRNA to the cytoplasm where protein synthesis continues .

A mutation in the CFTR gene affects the function of CFTR proteins, which are responsible for moving chloride ions out of the cells lining the pancreatic duct. When these proteins do not function properly, chloride ions do not move, leading to a lack of water movement out of the duct. Consequently, the liquid in the duct becomes sticky, resulting in blockages—a hallmark symptom of cystic fibrosis .

Co-dominance in the ABO blood system means that both IA and IB alleles express themselves equally in heterozygous individuals. This results in an AB blood type phenotype, demonstrating that multiple alleles can be expressed together without dominance over one another .

New genetic mutations can result in advantageous traits that improve survival and reproductive success, thereby promoting evolutionary fitness. Conversely, mutations can also introduce deleterious effects or diseases that may be selected against. Over generations, these dynamics influence species adaptation and evolution, evident in the dialogue around genetic polymorphisms like polydactyly .

By comparing DNA sequences in polydactylous cats, scientists can infer evolutionary lineage and geographic origin. For instance, if a sequence matches that of cats from a certain region, it can suggest a shared ancestral mutation or common origin, as seen in sequence comparisons among Hemingway's cats .

The appearance of colour blindness in a family with no history suggests a new mutation or a carrier individual who did not show symptoms. Such a spontaneous mutation could occur during gamete formation or result from an unseen carrier parent transmitting the recessive allele .

Polydactyly is caused by a dominant allele, meaning only one copy is necessary for the trait to manifest. This contrasts with cystic fibrosis, which is caused by a recessive allele requiring two copies for symptoms to appear. Thus, polydactyly shows up more directly in generations compared to the recessive pattern seen in cystic fibrosis .

In pedigree diagrams, the presence of cystic fibrosis typically occurs in individuals whose parents do not express the disease but may be carriers. This pattern indicates that the child inherited the recessive allele from both carrier parents, exemplifying a recessive inheritance pattern .

Genetic diagrams use X and Y chromosomes with alleles to map out potential genotypes and phenotypes of offspring. For colour blindness, considering the parents' genetic contribution enables predicting the likelihood of male and female children having or not having the condition based on the transmission of the X-linked allele .

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