Re: [jbovlaste] SNP, RFLP, allele

[Pierre Abbat <phma@bezitopo.org>]

On Sunday, January 20, 2013 21:33:36 Eitan Postavsky wrote:
> SNP: If you don't mind my suggesting an entirely different veljvo, I think
> the key word is {panra}. An SNP is a terpanra be lo jgina bei lo jgina,
> y'see?

So is a RFLP, if I understand you right. And neither has to be in a gene.

> RFLP: Are you referring to the difference between homologous DNA molecules
> or the laboratory technique? Oh well, I don't understand either.

I'm referring to a site on a chromosome where different alleles differ in the 
distance between consecutive occurrences of some sequence. It could be a 
variable-length repetition; it could be a SNP where one of the alleles is in 
the sequence.

> Allele: ginpanra. It's two jgina that panra each other, not differing in
> their terjgina. I'm aware that you're thinking of an allele as a particular
> sequence of base pairs that implements a given terjgina, but ginpanra works
> too, doesn't it?

Let's take a concrete example: OPN1LW. I was looking that up because I have 
some mutation of it. OPN1LW codes for the protein which combines with 
something to make it see red. It has seven SNPs (one is listed as "deleted"), 
each of which may cause some change to the protein. There are three phenotypes 
in men and four in women (it's on X): normal red vision, tetrachromacy (only 
in women), protanopia, and protanomalopia. There are three alleles 
distinguishable without looking at the SNPs: normal, missense causing 
protanomalopia, and nonsense causing protanopia. I can't tell which SNP is 
which from SNPedia, because it says "protan", and I don't know whether it 
means protanopia, protanomalopia, or both.

la'o .gin. OPN1LW .gin. jgina lo remna lo jei je ka viska lo xunre

Let's denote the three alleles by R, R', and r. I'd like to say:

la'o zoi. R' .zoi <allele> la'o .gin. OPN1LW lo ka frica viska lo xunre

or with x2 and x3 exchanged.

Pierre
-- 
gau do li'i co'e kei do


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