question about mutational defects

Emir ekhatipo at
Tue Feb 6 21:45:38 EST 2001

Don't know much about that, but what about melanoma? Or I might just
misunderstood what you need...

"Rienk" <rienk at> wrote in message
news:3A8067BC.E8D54799 at
> Hi all,
> I've just started with a molecular biology study after I've gotten a
> "pre-BA" in medical microbiology. The problem is that I need to do an
> assignment where I select a disorder/deformity/defect that is caused by
> a mutation and can be detected easily by a) protein measurements or b)
> visually. Now, of course some disorders came to me (thalassemia, CF,
> G6PD, BRCA 1 en 2) but the problems are a) these do not occur often in
> the general western population, b) the distinction between the genetic
> and the mutational types can almost not be divided by clinical assays
> and c) the tests take up way to much time and can't be completed in the
> number of hours we have in the lab.
> So, my question would be if anyone can name a disorder, deformity or
> defect that finds its origins in genetic mutations and can be detected
> rather easily.
> Thanks,
> Rienk
> |[icq no.]| - 59852775

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