question: need some help

Tinymiracle1 · Dec 6, 2011

I was wandering if someone could explain the whole 5T/7T/9T when genetics are tested. Do we all have these? Does only people who have CF have these different variants? I am just slightly confused on this topic. Any information would be greatly appreciated.

Tinymiracle1 · Dec 6, 2011

I was wandering if someone could explain the whole 5T/7T/9T when genetics are tested. Do we all have these? Does only people who have CF have these different variants? I am just slightly confused on this topic. Any information would be greatly appreciated.

Tinymiracle1 · Dec 6, 2011

I was wandering if someone could explain the whole 5T/7T/9T when genetics are tested. Do we all have these? Does only people who have CF have these different variants? I am just slightly confused on this topic. Any information would be greatly appreciated.

brent · Dec 7, 2011

I found this on the googles:

<BLOCKQUOTE style="MARGIN-RIGHT: 0px" dir=ltr>
The 5T, 7T and 9T variants<A><IMG border=0 align=left src="../buttons/topvsmall.gif" width=13 height=13></A>
Some CFTR mutations may act with other mutations on the same allele (i.e. the degree of clinical illness caused by the CFTR gene mutation may depend on another closely related genetic variant on the same bit of the chromosome). An example of this is exon 9 splicing which is influenced by the polythymidine sequence of intron 8 (Massie et al, 2001). The polythymidine tract is situated in intron 8 near the splice site for exon 9. The shorter the polythymidine tract, the more often exon 9 is skipped from CFTR mRNA. Transcripts missing exon 9 result in a protein with no chloride channel activity. Because CFTR protein missing exon 9 is non functional and exon-9 splicing is inversely proportional to the length of the thymidine sequences, the 9T variant allows normal splicing while the 5T variant is associated with the highest level of non-functional CFTR (e.g. more CFTR missing exon 9) 
The commonest polymorphism is the seven thymidine (7T) variant and the delta F508 mutation occurs exclusively on the 9T variant. This variation may be important in some CFTR mutations e.g. R117H. The presence of R117H/delta F508 on a background of 5T is associated with an elevated sweat test and clinical CF. R117H in association with 7T may result in normal, borderline or elevated sweat values and a variable clinical presentation (Kiesewetter et al, 1993; Rave-Harel et al, 1997; Massie et al, 2001; Peckham et al, 2006). </BLOCKQUOTE>

I'm no expert but I take from all this that 9t = pretty good, 5t = pretty bad and 7t is in the middle.

I understand that 5t 7t and 9t are the names of locations in the genetic code.

I guess before I start making a fool of myself I should assume you know more about this than me. I did some biology 12 years ago in university, that's the extent of my expertise here. What exactly are you stuck on, maybe I can help with the googling?

brent · Dec 7, 2011

I found this on the googles:

<BLOCKQUOTE style="MARGIN-RIGHT: 0px" dir=ltr>
The 5T, 7T and 9T variants<A><IMG border=0 align=left src="../buttons/topvsmall.gif" width=13 height=13></A>
Some CFTR mutations may act with other mutations on the same allele (i.e. the degree of clinical illness caused by the CFTR gene mutation may depend on another closely related genetic variant on the same bit of the chromosome). An example of this is exon 9 splicing which is influenced by the polythymidine sequence of intron 8 (Massie et al, 2001). The polythymidine tract is situated in intron 8 near the splice site for exon 9. The shorter the polythymidine tract, the more often exon 9 is skipped from CFTR mRNA. Transcripts missing exon 9 result in a protein with no chloride channel activity. Because CFTR protein missing exon 9 is non functional and exon-9 splicing is inversely proportional to the length of the thymidine sequences, the 9T variant allows normal splicing while the 5T variant is associated with the highest level of non-functional CFTR (e.g. more CFTR missing exon 9) 
The commonest polymorphism is the seven thymidine (7T) variant and the delta F508 mutation occurs exclusively on the 9T variant. This variation may be important in some CFTR mutations e.g. R117H. The presence of R117H/delta F508 on a background of 5T is associated with an elevated sweat test and clinical CF. R117H in association with 7T may result in normal, borderline or elevated sweat values and a variable clinical presentation (Kiesewetter et al, 1993; Rave-Harel et al, 1997; Massie et al, 2001; Peckham et al, 2006). </BLOCKQUOTE>

I'm no expert but I take from all this that 9t = pretty good, 5t = pretty bad and 7t is in the middle.

I understand that 5t 7t and 9t are the names of locations in the genetic code.

I guess before I start making a fool of myself I should assume you know more about this than me. I did some biology 12 years ago in university, that's the extent of my expertise here. What exactly are you stuck on, maybe I can help with the googling?

brent · Dec 7, 2011

I found this on the googles:

<BLOCKQUOTE style="MARGIN-RIGHT: 0px" dir=ltr>
The 5T, 7T and 9T variants<A><IMG border=0 align=left src="../buttons/topvsmall.gif" width=13 height=13></A>
Some CFTR mutations may act with other mutations on the same allele (i.e. the degree of clinical illness caused by the CFTR gene mutation may depend on another closely related genetic variant on the same bit of the chromosome). An example of this is exon 9 splicing which is influenced by the polythymidine sequence of intron 8 (Massie et al, 2001). The polythymidine tract is situated in intron 8 near the splice site for exon 9. The shorter the polythymidine tract, the more often exon 9 is skipped from CFTR mRNA. Transcripts missing exon 9 result in a protein with no chloride channel activity. Because CFTR protein missing exon 9 is non functional and exon-9 splicing is inversely proportional to the length of the thymidine sequences, the 9T variant allows normal splicing while the 5T variant is associated with the highest level of non-functional CFTR (e.g. more CFTR missing exon 9) 
The commonest polymorphism is the seven thymidine (7T) variant and the delta F508 mutation occurs exclusively on the 9T variant. This variation may be important in some CFTR mutations e.g. R117H. The presence of R117H/delta F508 on a background of 5T is associated with an elevated sweat test and clinical CF. R117H in association with 7T may result in normal, borderline or elevated sweat values and a variable clinical presentation (Kiesewetter et al, 1993; Rave-Harel et al, 1997; Massie et al, 2001; Peckham et al, 2006). </BLOCKQUOTE>

I'm no expert but I take from all this that 9t = pretty good, 5t = pretty bad and 7t is in the middle.

I understand that 5t 7t and 9t are the names of locations in the genetic code.

I guess before I start making a fool of myself I should assume you know more about this than me. I did some biology 12 years ago in university, that's the extent of my expertise here. What exactly are you stuck on, maybe I can help with the googling?

brent · Dec 7, 2011

no. what I said was wrong.

5t 7t and 9t seem to be variations of the mutation of the CF gene. If you don't have the CF gene you wouldn't have these variations of it.

brent · Dec 7, 2011

no. what I said was wrong.

5t 7t and 9t seem to be variations of the mutation of the CF gene. If you don't have the CF gene you wouldn't have these variations of it.

brent · Dec 7, 2011

no. what I said was wrong.

5t 7t and 9t seem to be variations of the mutation of the CF gene. If you don't have the CF gene you wouldn't have these variations of it.

question: need some help

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