Re: Structural variation in the genome.
- From: r norman <r_s_norman@xxxxxxxxxxxx>
- Date: Sun, 5 Aug 2007 23:55:55 -0400 (EDT)
On Fri, 3 Aug 2007 20:02:58 -0400 (EDT), Lavinia Gordon
<lavinia.gordon@xxxxxxxxxxx> wrote:
Hello all
This is a bit of a tangent from most of the postings, but some posters
may be able to help me.
I have data from two patients who phenotypically have a disease caused
by mutations in a particular gene, however they do not have mutations
in the causative gene. One way to follow this up would be to look for
genome copy number variation. However as I am only really interested
in the region around one gene, this seems a bit like using a
sledgehammer to crack a nut. Does anyone have any suggestions for
suitable methods to study how the surrounding region/upstream of this
gene differs in the patients from the norm?
I believe that your idea would require sequencing but others here are
more familiar with the molecular biological techniques. How can you
be sure that your patients do not have that mutation? Were the
appropriate genes actually sequenced or are you looking at some other
related marker? How can you be sure that there is no other way of
causing that disease other than mutating that gene? There are
diseases like sickle cell anemia where a specific gene is the only
cause. However, there are many others where a specific protein is
deficient or non-functional and there are many ways to produce that
result without modifying the gene coding for the protein.
.
- References:
- Structural variation in the genome.
- From: Lavinia Gordon
- Structural variation in the genome.
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