DELTA F508 5T

M

Mommafirst

Guest
Everyone has two chromosomes -- get one from your mom, one from dad. In order to have CF, you must have a CF mutation on each chromosome.

The Delta F508 may be on the SAME chrmomosome as the 5T, in which case they function together, but so long as the other chromosome has normal CFTR functioning, the patient is JUST a carrier.

But if the DF508 is on one chromosome and the 5T is on the other chromosome, that is usually considered "atypical CF" mainly because the 5T is not a mutation, but can still cause CF symptoms in conjunction with a mutation on the other chromosome.

HTH
 
M

Mommafirst

Guest
Everyone has two chromosomes -- get one from your mom, one from dad. In order to have CF, you must have a CF mutation on each chromosome.

The Delta F508 may be on the SAME chrmomosome as the 5T, in which case they function together, but so long as the other chromosome has normal CFTR functioning, the patient is JUST a carrier.

But if the DF508 is on one chromosome and the 5T is on the other chromosome, that is usually considered "atypical CF" mainly because the 5T is not a mutation, but can still cause CF symptoms in conjunction with a mutation on the other chromosome.

HTH
 
M

Mommafirst

Guest
Everyone has two chromosomes -- get one from your mom, one from dad. In order to have CF, you must have a CF mutation on each chromosome.

The Delta F508 may be on the SAME chrmomosome as the 5T, in which case they function together, but so long as the other chromosome has normal CFTR functioning, the patient is JUST a carrier.

But if the DF508 is on one chromosome and the 5T is on the other chromosome, that is usually considered "atypical CF" mainly because the 5T is not a mutation, but can still cause CF symptoms in conjunction with a mutation on the other chromosome.

HTH
 
M

Mommafirst

Guest
Everyone has two chromosomes -- get one from your mom, one from dad. In order to have CF, you must have a CF mutation on each chromosome.

The Delta F508 may be on the SAME chrmomosome as the 5T, in which case they function together, but so long as the other chromosome has normal CFTR functioning, the patient is JUST a carrier.

But if the DF508 is on one chromosome and the 5T is on the other chromosome, that is usually considered "atypical CF" mainly because the 5T is not a mutation, but can still cause CF symptoms in conjunction with a mutation on the other chromosome.

HTH
 
M

Mommafirst

Guest
Everyone has two chromosomes -- get one from your mom, one from dad. In order to have CF, you must have a CF mutation on each chromosome.
<br />
<br />The Delta F508 may be on the SAME chrmomosome as the 5T, in which case they function together, but so long as the other chromosome has normal CFTR functioning, the patient is JUST a carrier.
<br />
<br />But if the DF508 is on one chromosome and the 5T is on the other chromosome, that is usually considered "atypical CF" mainly because the 5T is not a mutation, but can still cause CF symptoms in conjunction with a mutation on the other chromosome.
<br />
<br />HTH
 
H

hopesiris

Guest
I have DF508 on one chromosome and 5T TG12 on the other. I have very mild/atypical CF presentation. With the 5T it matters how many "repeats" it has. TG11 tends to cause mild CF or I think the person can be asymptomatic and TG12 or TG13 tends to cause mild to moderate CF. Once the full genetic panel is done you'll know which TG it is and confirm that it is on the same chromosome (a carrier) or opposite chromosome (CF or CAVD). CAVD is male infertility that can be present even if CF symptoms never appear in someone with 2 mutations.
 
H

hopesiris

Guest
I have DF508 on one chromosome and 5T TG12 on the other. I have very mild/atypical CF presentation. With the 5T it matters how many "repeats" it has. TG11 tends to cause mild CF or I think the person can be asymptomatic and TG12 or TG13 tends to cause mild to moderate CF. Once the full genetic panel is done you'll know which TG it is and confirm that it is on the same chromosome (a carrier) or opposite chromosome (CF or CAVD). CAVD is male infertility that can be present even if CF symptoms never appear in someone with 2 mutations.
 
H

hopesiris

Guest
I have DF508 on one chromosome and 5T TG12 on the other. I have very mild/atypical CF presentation. With the 5T it matters how many "repeats" it has. TG11 tends to cause mild CF or I think the person can be asymptomatic and TG12 or TG13 tends to cause mild to moderate CF. Once the full genetic panel is done you'll know which TG it is and confirm that it is on the same chromosome (a carrier) or opposite chromosome (CF or CAVD). CAVD is male infertility that can be present even if CF symptoms never appear in someone with 2 mutations.
 
H

hopesiris

Guest
I have DF508 on one chromosome and 5T TG12 on the other. I have very mild/atypical CF presentation. With the 5T it matters how many "repeats" it has. TG11 tends to cause mild CF or I think the person can be asymptomatic and TG12 or TG13 tends to cause mild to moderate CF. Once the full genetic panel is done you'll know which TG it is and confirm that it is on the same chromosome (a carrier) or opposite chromosome (CF or CAVD). CAVD is male infertility that can be present even if CF symptoms never appear in someone with 2 mutations.
 
H

hopesiris

Guest
I have DF508 on one chromosome and 5T TG12 on the other. I have very mild/atypical CF presentation. With the 5T it matters how many "repeats" it has. TG11 tends to cause mild CF or I think the person can be asymptomatic and TG12 or TG13 tends to cause mild to moderate CF. Once the full genetic panel is done you'll know which TG it is and confirm that it is on the same chromosome (a carrier) or opposite chromosome (CF or CAVD). CAVD is male infertility that can be present even if CF symptoms never appear in someone with 2 mutations.
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