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In: Biology

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, the digestive...

  1. Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, the digestive system and other organs within the body. CF affects cells that produce thin and slippery mucus and cause the secretions to become sticky and thick. CF is caused by a deletion mutation on chromosome 7. In order for a child to have cystic fibrosis they must inherit a defective gene from each of his/her parents.  

  1. Rob and Jane have four children in this order: a son (Leon), a daughter (Claire), a son with CF (Shane) and a daughter (Parmjit) . Parmjit had a child with a man (Keron) and their daughter (Laura) has CF. Draw and fully label a pedigree to show this family’s inheritance of CF. What mode of inheritance is cystic fibrosis?

  • 1 mark for symbols and legend

  • 1 mark for generations

  • 2 marks for correctly labelling carrier and afflicted genotypes/phenotypes

  • 1 mark for stating inheritance

  1. If their youngest daughter (Parmjit) and her husband were to have another child, what is the probability that the next child would be a son with CF? Draw a punnett square to show how you came up with your answer.

  2. CF is caused by a deletion mutation. Scientists have found that there are three bases on chromosome 7 that have been deleted. Explain why the deletion of 3 bases may not be as devastating as the deletion of one base. Be very specific and give an example to help with your explanation.

Solutions

Expert Solution

As we know, Cystic Fibrosis is an autosomal recessive disorder. This means that in order to have CF, a person must have obtained allele for it from both the parents. This also implies that the parents could be either a combination of any of three-

a) Both parents have CF

b) Both parents are carrier of CF

c) Either of the two parents is carrier and the other one is affected by CF

In this case, Parents Rob and Jane must be carrier for CF

In second generation, Keron has CF while Parmjit is the carrier parent.

Genotype of Keron

XY

Genotype of Parmjit

XX

X

Y

X

XX

XY

X

XY

XX

Thus out of four kids, one boy and one girl has CF and another boy and girl are carrier for CF

So, the probability of having a second male child with CF

Deletion of 3 base nucleotide disturbs only one amino acid in the entire nucleotide sequence. But deletion of only one single base alters the entire amino acid and may cause frame shift which ultimately leads to mutation

gladiator answered 2 years ago
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