Talk:ΔF508

Δ

I'm thinking perhaps there should be a line that mentions that Δ is pronounced 'delta'. At least I assume that is the case here. Fanra 08:33, 13 April 2007 (UTC)

Merger

I do not think this article should be merged simply because CF isn't the only effect of this gene. When other 'weaker' mutations are present along with it, it can cause Congenital Absence of the Vas Deferens, even without the other effects of CF (I should clarify this in the article). I think there is enough material for a good article on this gene specifically (google for it if you doubt this) and I think that this specific genetic cause of CF, as detailed in this article, would make the CF article a bit crowded. --TexasDex 00:59, August 15, 2005 (UTC)

Perhaps a more general article on the genetic causes of CF would be more suitable. This is currently a hot research topic and there is plenty to discuss about it that wouldn't fit well into the main article. --ImmortalGoddezz 02:11, 15 August 2005 (UTC)

I'll probably get around to that eventually. --TexasDex 04:22, September 7, 2005 (UTC)

I'm still not sure if one mutation should have its own article. Even if CAVD is germane only to d508, this fact could be mentioned on the CF page itself, given that d508 causes the majority of CF cases. I do not disagree with TexasDex that CFTR should not have its own article (it has already), but d508 is just one of the 100s of documented mutations in that gene. JFW | T@lk 16:27, 26 September 2005 (UTC)

It should probably be merged with CFTR (gene) --WS 13:22, 12 January 2006 (UTC)

It makes more sense to merge it with the CF page. It is by far the most common mutation resulting in clinically significant CF. JFW | T@lk 14:24, 12 January 2006 (UTC)

How about merging both CFTR and this into Genetic Causes of Cystic Fibrosis? Between the two articles there's an awful lot of detail that could make a substantial sub-article, but might be a bit too big for a simple section.--TexasDex

CFTR-ΔF508

Should this page be moved to CFTR-ΔF508? Technically, any gene that encodes 508 codons can have a ΔF508 mutation, right? I know -- pedant! -- but... --David Iberri (talk) 15:22, 29 October 2009 (UTC)

Codons

Something's not right with the "mechanism" section; the text currently claims that DNA sequence "TAG" at position 507 leads to the mRNA codon for isoleucine, and "AAA" at 508 leads to phenylalanine. The gene listings I've found for the CFTR amino acid sequence do seem to confirm that positions 507 and 508 are isoleucine and phenylalanine, but those DNA sequences don't lead to those aminos. The NCBI breakdown of the CFTR sequence seems to show (do a page search for "iifgv"; that's the sequence of aminos at positions 506-510. Then click the "f" to highlight the DNA sequence above) that position 507 is represented by DNA "ATC" and 508 by "TTT". Or am I completely reading that wrong? Can someone with more genome knowledge verify this? --MidnightLightning (talk) 16:12, 11 May 2012 (UTC)

It depends on the which strand of DNA you're reading (double stranded always makes it more confusing). — Preceding unsigned comment added by 137.82.80.247 (talk) 18:56, 20 June 2014 (UTC)

Since no one has disputed this, I've gone ahead and made the change. --MidnightLightning (talk) 20:39, 25 July 2012 (UTC)

Heterozygous carriers - Symptoms

Several research studies indicate that Heterozygous carriers are at increased risk for various (often respiratory) symptoms. See, for example the following articles:

• Association of CFTR gene mutation with bronchial asthma, by Nutan Maurya, Shally Awasthi & Pratibha Dixit
• Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Wang X1, Kim J, McWilliams R, Cutting GR.
• Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function. Massie J1, Castellani C2, Grody WW3.
• Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion. Dahl M1, Nordestgaard BG, Lange P, Tybjaerg-Hansen A.
• DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Dahl M1, Tybjaerg-Hansen A, Lange P, Nordestgaard BG.

If I am able to obtain copies of these full articles and read them I plan to add a relevant section. --Lbeaumont (talk) 03:40, 4 February 2015 (UTC)

I have augmented the section on Heterozygous carriers with the results of several research studies. This now seems to contradict the statement: "Generally ΔF508 carriers are symptom free" which we should consider revising. --Lbeaumont (talk) 02:53, 6 February 2015 (UTC)

SNP i3000001

I understand this can also be identifed as SNP i3000001. What is that identification scheme, and how does that translate to this position? Thanks! --Lbeaumont (talk) 13:26, 15 March 2015 (UTC)