Re: Polymorphic Gene -- Definition?
- From: "Ron O" <rokimoto@xxxxxxx>
- Date: Sat, 15 Apr 2006 18:48:48 -0400 (EDT)
Ani wrote:
Can somebody give a protocol on MMP3 5A/6A? With the primers, cycling
times etc? Is somone is working on it? Or on MMP9? Thank you!
5&query_hl=1&itool=pubmed_DocSum
The above PubMed link should do. It has free access to the paper that
has the PCR test.
[moderator's note: Mind the wrap. If the sbe line-eater munges, try this:
http://tinyurl.com/o6yzb - JAH]
Ron Okimoto
Ron O wrote:
kdd21@xxxxxxxxxxx wrote:
Thanks for the replies-- though I'm still not sure I "get it."
To be more specific, I've been trying to understand just what is it
about the MMP3 gene that is significant about disease inheritance
(specifically, of aneurysms). I've seen dozens of sites that mention
"MMP3 Polymorphism" and 5A/6A or 6A/6A, and "heritability due to MMP3
polymorphism." Google for mmp3 polymorphism and you'll find nothing
but examples of this sort of thing.
What I'd really like to know is how is the trait likely to be
inherited-- all I know about this stuff is the old "dominant/recessive"
characteristics where you need to get it from both parents or just one
parent, etc., but none of this stuff is talking that language at all--
perhaps dominant/recessive is archaic language, or at least this
particular gene is a little more complex than that?
My mom recently had a brain aneurysm (at age 81) which runs in the
family somewhat. Her doc mentioned that she had "anatomy" that was
rather challenging to the procedure (due to the convolution of her
blood vessels, apparently, it was an angiogram/catheter technique) and
it looks like that characteristic is itself a risk factor for
aneurysms. None of my dad's family has had aneurysms, so I'm wondering
what the likelyhood I've inherited the trait is-- the MMP3 gene seems
to be a possible source, but modern gene-speak is way over my head it
seems so I can't really make sense out of what it means
heredity/probability-wise...
--
Sync
The MMP3 association with tumor progression is just that an
association. The genetics that are associated with tumor progression
are complex and MMP3 is just one of many genes that have an effect. In
some cases it has a large enough effect to detect and in others it
doesn't.
The 5A/6A polymorphism is just a DNA sequence difference in the
promoter region (the portion of the gene that regulates RNA synthesis
of the MMP3 mRNA. It does not affect the protein sequence and function
of the gene, but may affect the regulation of when and how much of the
gene product is produced. It is an insertion/deletion polymorphism.
Some alleles have 5 adenosines in a row at a particular position and
some alleles have 6 adenosines in a row. So there has been either a
loss or gain of one base-pair that differentiates the gene sequences.
The alleles of MMP3 are inherited and can be tracked in a Mendelian
fashion, but the phenotype of the effect on tumor progression is not
always associated with the genotype. This is due to gene interactions,
so instead of being in the realm of qualitative genetics you enter the
realm of quantitative genetics. In quantitative genetics terms you can
track the alleles of this gene and associate them with phenotype, but
you can't track all the genes involved in the phenotype so the
phenotype doesn't segregate in a Mendelian fashion. You may be
homozygous for the tumor supressing alleles of MMP3, but you have
alleles of other genes that counter these effects so you may not see
tumor suppression in all such cases. Tumor suppression is only more
likely to occur with certain genotypes of MMP3.
When you are talking about complex genetic traits you can't go by
single gene effects.
Ron Okimoto
.
- Prev by Date: Article: Rewind, please: OMRF scientist reverses process of cell division
- Next by Date: Re: Primitive ideas about sexual reproduction?
- Previous by thread: Re: Polymorphic Gene -- Definition?
- Next by thread: Article: Scientists trying to make artificial life forms in the lab may have more work ahead of them than they thought.
- Index(es):
Relevant Pages
|
