Doctor,
Clue me in! Cystic Fibrosis is a germline disease, in which the offspring inherits two CFTR mutations from its parents. This genetic disease affects the lungs and may result in death if left untreated, and those that live through it will undoubtedly suffer throughout their lives as mucus and bacteria will eventually fill their lungs if left untreated.
But Doctor,
I don’t have those symptoms!
Slow down there, bucko! Although you may not have cystic fibrosis that doesn’t mean that it won’t affect you. Your child may inherit the mutation if your partner and yourself are carriers, and so optimally both parents should be tested. If each parent carries a single CFTR mutation their child has 25% chance of having Cystic Fibrosis. Caucasian populations have a significantly higher risk of having a CFTR mutation as compared to ethnic minorities, but there is still a chance! This is obviously very serious, and testing is advised. All the better if there's no risk of passing down the mutation. However, say your future children are at risk of having the disease. It will be up to
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Mutations aren’t all bad. Some mutations don't result in any sort of change. What we’re looking for is a nonsense mutation, which causes in an abrupt stop in the expression of this dna sequence. The expression of the genet would have otherwise continued were it not for the mutation. This may sound very complicated but in reality all that’s needed to cause the mutation is the change in a single amino acid, as is the case with the CFTR gene. The 240th base in our transcribed area is usually the amino acid Cytosine, but in those with the mutation causing Cystic Fibrosis have Thymine in its place. Thus this Thymine, represented by T, is what we’re looking for. So our polymerase chain reaction test will span one hundred base pairs of amino acids on both sides of the mutation, and through the use of two primers this one fragment of dna will be replicated over and over