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Inheriting 2 defective genes from one parent?

H

hmw

New member
Another possible, but unlikely, cause for one parent to pass on CF:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715272/">Uniparental disomy as a mechanism for human genetic disease.</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pubmed/2570528?ordinalpos=1&itool=PPMCLayout.PPMCAppController.PPMCArticlePage.PPMCPubmedRA&linkpos=1">Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?</a>

eta> an article referencing the possibility of inheriting 2 mutations from one parent:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.liebertonline.com/doi/abs/10.1089/109065703321560985">Cystic Fibrosis: S158N (605G->A) Is a Rare Genetic Variant Found in Coupling with DF508</a>
 
H

hmw

New member
Another possible, but unlikely, cause for one parent to pass on CF:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715272/">Uniparental disomy as a mechanism for human genetic disease.</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pubmed/2570528?ordinalpos=1&itool=PPMCLayout.PPMCAppController.PPMCArticlePage.PPMCPubmedRA&linkpos=1">Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?</a>

eta> an article referencing the possibility of inheriting 2 mutations from one parent:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.liebertonline.com/doi/abs/10.1089/109065703321560985">Cystic Fibrosis: S158N (605G->A) Is a Rare Genetic Variant Found in Coupling with DF508</a>
 
H

hmw

New member
Another possible, but unlikely, cause for one parent to pass on CF:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715272/">Uniparental disomy as a mechanism for human genetic disease.</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pubmed/2570528?ordinalpos=1&itool=PPMCLayout.PPMCAppController.PPMCArticlePage.PPMCPubmedRA&linkpos=1">Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?</a>

eta> an article referencing the possibility of inheriting 2 mutations from one parent:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.liebertonline.com/doi/abs/10.1089/109065703321560985">Cystic Fibrosis: S158N (605G->A) Is a Rare Genetic Variant Found in Coupling with DF508</a>
 
H

hmw

New member
Another possible, but unlikely, cause for one parent to pass on CF:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715272/">Uniparental disomy as a mechanism for human genetic disease.</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pubmed/2570528?ordinalpos=1&itool=PPMCLayout.PPMCAppController.PPMCArticlePage.PPMCPubmedRA&linkpos=1">Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?</a>

eta> an article referencing the possibility of inheriting 2 mutations from one parent:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.liebertonline.com/doi/abs/10.1089/109065703321560985">Cystic Fibrosis: S158N (605G->A) Is a Rare Genetic Variant Found in Coupling with DF508</a>
 
H

hmw

New member
Another possible, but unlikely, cause for one parent to pass on CF:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715272/">Uniparental disomy as a mechanism for human genetic disease.</a>
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pubmed/2570528?ordinalpos=1&itool=PPMCLayout.PPMCAppController.PPMCArticlePage.PPMCPubmedRA&linkpos=1">Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?</a>
<br />
<br />eta> an article referencing the possibility of inheriting 2 mutations from one parent:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.liebertonline.com/doi/abs/10.1089/109065703321560985">Cystic Fibrosis: S158N (605G->A) Is a Rare Genetic Variant Found in Coupling with DF508</a>
 
C

candi81

New member
Thanks for your responses. No, he has shown no symptoms as of now. The initial bloodwork they do in the hospital when the baby was born came back borderline. This was why the sweat test was ordered, which it also came back borderline.
 
C

candi81

New member
Thanks for your responses. No, he has shown no symptoms as of now. The initial bloodwork they do in the hospital when the baby was born came back borderline. This was why the sweat test was ordered, which it also came back borderline.
 
C

candi81

New member
Thanks for your responses. No, he has shown no symptoms as of now. The initial bloodwork they do in the hospital when the baby was born came back borderline. This was why the sweat test was ordered, which it also came back borderline.
 
C

candi81

New member
Thanks for your responses. No, he has shown no symptoms as of now. The initial bloodwork they do in the hospital when the baby was born came back borderline. This was why the sweat test was ordered, which it also came back borderline.
 
C

candi81

New member
Thanks for your responses. No, he has shown no symptoms as of now. The initial bloodwork they do in the hospital when the baby was born came back borderline. This was why the sweat test was ordered, which it also came back borderline.
 
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