Heterozygous Df508?

[imagine04]

What is the difference between Homozygous Df508 and Heterozygous Df508? I just found out today via medical records that Parker has Heterozygous. Is one mutation more lung/breathing issues while the other is more digestive issues?

TIA Everyone! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[imagine04]

What is the difference between Homozygous Df508 and Heterozygous Df508? I just found out today via medical records that Parker has Heterozygous. Is one mutation more lung/breathing issues while the other is more digestive issues?

TIA Everyone! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[imagine04]

What is the difference between Homozygous Df508 and Heterozygous Df508? I just found out today via medical records that Parker has Heterozygous. Is one mutation more lung/breathing issues while the other is more digestive issues?
<br />
<br />TIA Everyone! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[hmw]

As you know, you need two mutations to have CF.
Homozygous Df508= both mutations are DF508.
Heterozygous Df508= one mutation is DF508 and the other is any of the other 1,500+ other mutations, known or unknown.
The other possibility, in the case of someone who is asymptomatic and has negative tests otherwise for CF is:
Heterozygous Df508= one mutation is DF508 and the other is normal (carrier.) This is not applicable in your son's case.

DF508 is the same mutation in either case; this terminology only refers to whether your child has one copy of it or two- nothing to do with severity, etc.

 

[hmw]

As you know, you need two mutations to have CF.
Homozygous Df508= both mutations are DF508.
Heterozygous Df508= one mutation is DF508 and the other is any of the other 1,500+ other mutations, known or unknown.
The other possibility, in the case of someone who is asymptomatic and has negative tests otherwise for CF is:
Heterozygous Df508= one mutation is DF508 and the other is normal (carrier.) This is not applicable in your son's case.

DF508 is the same mutation in either case; this terminology only refers to whether your child has one copy of it or two- nothing to do with severity, etc.

 

[hmw]

As you know, you need two mutations to have CF.
<br />Homozygous Df508= both mutations are DF508.
<br />Heterozygous Df508= one mutation is DF508 and the other is any of the other 1,500+ other mutations, known or unknown.
<br />The other possibility, in the case of someone who is asymptomatic and has negative tests otherwise for CF is:
<br />Heterozygous Df508= one mutation is DF508 and the other is normal (carrier.) This is not applicable in your son's case.
<br />
<br />DF508 is the same mutation in either case; this terminology only refers to whether your child has one copy of it or two- nothing to do with severity, etc.
<br />

 

[ktsmom]

Heterozygous DF508 means one of the defective genes is DF508 and the other gene is to be identified, as you said.

Our daughter is homozygous for DF508 - both of her CFTR genes are DF508.

DF508 is a Class II mutation. Although <i>mutations do not necessarily correlate to clinical outcome</i> DF508 usually causes pancreatic insufficiency in addition to the typical lung issues.

 

[ktsmom]

Heterozygous DF508 means one of the defective genes is DF508 and the other gene is to be identified, as you said.

Our daughter is homozygous for DF508 - both of her CFTR genes are DF508.

DF508 is a Class II mutation. Although <i>mutations do not necessarily correlate to clinical outcome</i> DF508 usually causes pancreatic insufficiency in addition to the typical lung issues.

 

[ktsmom]

Heterozygous DF508 means one of the defective genes is DF508 and the other gene is to be identified, as you said.
<br />
<br />Our daughter is homozygous for DF508 - both of her CFTR genes are DF508.
<br />
<br />DF508 is a Class II mutation. Although <i>mutations do not necessarily correlate to clinical outcome</i> DF508 usually causes pancreatic insufficiency in addition to the typical lung issues.