Hi
First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.
F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.
Good luck, let us know what you find out.
First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.
F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.
Good luck, let us know what you find out.