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anybody have experience with DF508/ 5T
- Thread starter bkc3
- Start date
Well,
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Well,
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Well,
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Well,
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
Well,
<br />
<br />Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
<br />
<br />Genetics is a complex topic. For a while we have understood that sometimes being heterozygous dominant (genotype) does not completely mask the phenotypic expression of the recessive gene. That is, some carriers demonstrated CF like symptoms (gastric problems, sinus/allergy issues). More recently, studies were carried out on gene modifiers (polythymidine polymorphisms of intron 8) to attempt to explain why some phenotypic expressions varied from individual to individual (pancreatic sufficiency/insuffiency or mild-moderate or severe lung disease) within the same CFTR mutation (DF508 or R117H). What has been found is that some carriers have a recessive gene, in your case DF508 and a dominant gene. The difference is the Poly T variant is assigned to an allele on the dominant gene. Patients who present with this genotype describe CF like symptoms like frequent pulmonary exacerbations and sinusitis, they also typically have bronchiectasis, borderline sweat test and nasal PD studies. However, genetically, they do not have CF as they are not homozygous recessive. These polymorphisms likely explain why some carriers have had CF-like symptoms. Below is a link to a study done by UNC-Chapel Hill that goes into a little more detail.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://ajrccm.atsjournals.org/cgi/content/full/162/5/1919">http://ajrccm.atsjournals.org/...ontent/full/162/5/1919</a>
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