I am 24 years old and was just informed by my genetic consular that I have both the DeltaF508 and R117H mutations. This came as a bit of a surprise, as I have been asymptomatic or had mild symptoms my whole life. We are unsure if I have the 7T or 9T alleles. I was tested because my husband and I are planning on starting a family and there is a case of CF on my father's side of the family. My husband's side of the family has no history of CF but since he is of European decent, we decided it was a good idea to have him tested, too. He came back negative for the most common CF mutations.
Our genetic consular was very nice, but she spoke English with a very thick accent. There was a little bit of a language barrier during our appointment and I was hoping someone may be able to clarify a few questions for me.
Our genetic consular implied that these mutations could be on the same chromosome or on different ones. She talked a little bit about how the 5T can cause infertility in males. Can the DeltaF508 and the R117H mutations be on the same chromosome? If so, does it really matter if I have the 7T or 9T alleles? Would having the DeltaF508 and the R117H on the same chromosome would affect fertility in a male child if he did NOT inherit another CF mutation from his father?
If anyone can please clear up this confusion for us, it would be greatly appreciated!