Question

Cystic fibrosis is progressive genetic disease causing thick sticky secretions instead of thin slippery secretions, this phenotype is particularly harmful to the lungs and digestive system. This disease is most prevalent in caucasians of Northern European descent. A woman from Britain fleeing Brexit comes to you - a genetic counselor - worried that her unborn child would have this disease.

I. In order to give her a risk assessment, what is 1 thing you need to know?

II. If she does not have the disease, what other data and information is going to allow you to give her the most definitive answer?

Answer 1

1. I need to know if anyone in her blood relation had cystic fibrosis or not. Cystic fibrosis is an autosomal recessive disorder. The individual affected with this disease are having genotype, cc. The woman is normal so, she can be either CC or Cc.

2. Now to determine the risk of her child having cystic fibrosis or not, I need to construct a Pedigree on the basis of whether other members of the family were having the disease or not. I also need to know the genotype of her husband in order to give an accurate probability of whether the child will be affected or not.

Pedigree is a pictorial representation of Inheritance of traits in a family using specific symbols. It helps to determine the inheritance pattern of a particular trait and also help us to determine the risk of the particular trait in babies who will be born in future.

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