A cystic fibrosis mutation in a certain pedigree involves a change in a single b

Question

A cystic fibrosis mutation in a certain pedigree involves a change in a single base-pair. This change destroys an EcoRI restriction site normally found in this position.

a) How would you use this information in counseling individuals in this family about their likelihood of being carriers of cystic fibrosis? State the experiments needed.

b) Suppose you detect that a woman in this family is a carrier. She is married to an unrelated man who is also a heterozygote for cystic fibrosis, but in his case it is a different mutation in the same gene. How would you counsel this couple about the risks of a child having cystic fibrosis?

Explanation / Answer

A. PCR amplification and Restriction Digestion followed by Agarose gel electrophoresis will give information about the mutation in custic fibrosis gene and abolition of E. CoR1 site. In gel normal CF gene gives 2 bands. Where as mutated one gives one band.

b. As the CF is a Autosomal disease it distributes equally to both male and female progeny. As both the parents heterozygous for CF 1/4 th of their progeny will be in risk of CF.

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