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Home > Archive > Multiple sclerosis support > November 2005 > Autosomal Recessive ?? Help !
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Autosomal Recessive ?? Help !
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| Roarke 2005-11-25, 10:57 am |
| Hi All, turns out I have a common genetic mutation, nothing to do with MS,
but it's an "autosomal recessive" one.
Can anyone translate to baby language for me ? Does this mean that I have
two copies of the mutated gene, therefore one copy from both parents who
were both carriers ? Never knew either parent you see so there's no way
this can be checked.
Anyone help please ??
Thanks
Roarke
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| Roarke wrote:
> Hi All, turns out I have a common genetic mutation, nothing to do with MS,
> but it's an "autosomal recessive" one.
>
> Can anyone translate to baby language for me? Does this mean that I have
> two copies of the mutated gene, therefore one copy from both parents who
> were both carriers? Never knew either parent you see so there's no way
> this can be checked.
Yes, that's what it means. Both parents were carriers [presumptively].
This is the case with ALL recessive traits. For instance, both of my
parents had brown eyes but I have blue eyes ... presumably, they
each carried the gene for blue eyes. Since my paternal grandfather
also had blue eyes, that's a good guess ... but without a complete
genetic profile, no one will ever know for sure ...
I'm not sure I'd call this a "mutation" ... anymore than everything
is, really ...
I hope that helps and that you're well.
Kathie
> Anyone help please ??
According to Genetics Home References
http://ghr.nlm.nih.gov/ghr/glossary/autosomalrecessive
Describes a trait or disorder requiring the presence
of two copies of a gene mutation at a particular locus
in order to express observable phenotype; specifically
refers to genes on one of the 22 pairs of autosomes
(non-sex chromosomes)
I like this definition better than the NIH's below because it also
describes a "trait." For instance, the gene for blue eyes is
recessive [if I remember my genetic courses correctly]... one has to
get the gene from both parents in order to have blue eyes.
According to the National Institutes of Health [USA]
http://www.nlm.nih.gov/medlineplus/...icle/002052.htm
An abnormal gene on one of the autosomal chromosomes (one
of the first 22 "non-sex" chromosomes) from each parent is
required to cause the disease. People with only one abnormal
gene in the gene pair are called carriers, but since the
gene is recessive they do not exhibit the disease.
In other words, the normal gene of the pair can supply the
function of the gene so that the abnormal gene is described
as acting in a recessive manner. BOTH parents must be
carriers in order for a child to have symptoms of the
disease. A child who inherits the gene from one parent will
be a carrier.
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| John Husvar 2005-11-26, 10:57 am |
| In article <4387b2a5$1_1@newspeer2.tds.net>,
KKT <sendme.nospam@hotpop.com> wrote:
>
> Yes, that's what it means. Both parents were carriers [presumptively].
>
> This is the case with ALL recessive traits. For instance, both of my
> parents had brown eyes but I have blue eyes ... presumably, they
> each carried the gene for blue eyes. Since my paternal grandfather
> also had blue eyes, that's a good guess ... but without a complete
> genetic profile, no one will ever know for sure ...
>
> I'm not sure I'd call this a "mutation" ... anymore than everything
> is, really ...
>
> I hope that helps and that you're well.
>
> Kathie
>
<chuckle> Oh, my God! We're all products of recombinant DNA! 
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| John Husvar wrote:
>
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> <chuckle> Oh, my God! We're all products of recombinant DNA!
Except for Kansans. ;-)
KKT
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| John Husvar 2005-11-26, 5:57 pm |
| In article <438888bd_2@newspeer2.tds.net>,
KKT <sendme.nospam@hotpop.com> wrote:
> John Husvar wrote:
>
>
> Except for Kansans. ;-)
>
> KKT
Hmmmm....OK, Kansans are all products of BASF, Monsanto, ADM, and
possibly Tammy Faye Bakker's cosmetics distributor, but they are also
Roundup -- er, ah, Rapture -- ready.
Hmmmm, again: If opponents of Intelligent Design are correct and
whatever designed the Universe requires a designer itself, which
requires its own designer, which requires its designer, reductio ad
absurdum, Amen, whence that singular singularity that went (Big) Bang,
Cingular Wireless?
Things that make you go Hmmmmmm. (or something)
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| Peace Dove 2005-11-30, 1:01 am |
| Is this serious ?
I hope not :-)
I wish you - all and only - good things ...... Dove
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