A minor item, Uschi, it is not a gene that causes downs, it is an aneuploidy (chromosomal abnormality). There is an extra copy of #21, can be either maternal or paternal homologue. Discussion of how this happens would be kinda long, suffice it to say that it does not come under the heading of a gene.
I think we should remember that Down's and Autism are very different conditions.
It'll be a lot harder to find a conclusive way of genetically testing for autism. Down's is a lot simpler to test for, as it has a very obvious cause, it's a genetic disorder, but as Nem said, it's not a gene that causes it, it's a chromosomal abnormality, people with Down's syndrome (trisomy 21) have three copies of chromosome 21. It's a lot simpler to identify genetically than autism ever will be.
We can't even decide what autism exactly is, and what other syndromes it encompasses, let alone its cause, so I can't really imagine any kind of remotely reliable test in the foreseeable future.
LOL im applying to rutgers...
I have posted about this before, ASDs are genetically complex, they require MUCH MUCH MORE time money and data to pinpoint, and you wont come up with a gene, you'll get a 'susceptibility locus' (or likely more than one) which with even more study might eventually yield susceptibility genes. This whole process will require a f***load of time.
I don't think there's anything wrong with finding out what exactly causes autism... uh, that is, providing that people are educated enough to make wise decisions as far as abortion is concerned. I agree with Nemidaelius, I think it'll be a long time before they find out enough to be able to devise an even vaguely reliable method of testing, because ASDs are such complex conditions.
I didn't know that some people had autism and down's. You'd think that Down Syndrome would be something that should definitley be cured, but.. I recently read Count Us In, which was written/dictated by two men with Down Syndrome who said that they would not want to be cured. One of these men appeared bright and the other stupid, but not ***, which raises the question: Is Down Syndrome more treatable than people think?
Well there *are* some things with Down's that do put a person's health at risk severely, but they are not ALWAYS part of it. I recently "talked" online to the mother of one of only 6 or 7 boys with Turner syndrome (yes, if it's a genetic mosaic, it is possible for a boy to have Turner's, regardless of what our genetics prof claimed!) whose other chromosome line happens to be Down's, and in spite of this unique combination, he has none of the physical "defects" of either syndrome.
In spite of some challenges, the boy sounds absolutely lovely and is much smarter than anyone had expected him to be, just in his own way.
So if things like heart defects (especially inoperable ones) could be "cured" without changing the person, then I'd certainly be all for curing aspects of Down's.
Hmmm... The turner syndrome thing could maybe be a side effect of Downs, if I am reading your post right... I am not sure I know what you said though. Could you post a pedigree to clarify?
Hmmm... The turner syndrome thing could maybe be a side effect of Downs, if I am reading your post right... I am not sure I know what you said though. Could you post a pedigree to clarify?
Not sure what you mean by a pedigree?
There are 6 or 7 boys in the world alive today who have Turner's.
By definition, Turner's means only 1 X chromosome. However, this does not always mean ALL CELLS in the body have the same combination. So in boys with Turner's, their sexual and other cells relevant for producing primary and secondary sex organs are XY, whereas many others throughout the body are X.
(I would assume that this mosaic effect also explains how things like Fragile X can manifest so differently in different people)
The lack of symptoms (physical defects that endanger his health seriously) does seem to be related to some degree with him also havin Down's (Trisomy 21) though.
Noetic, Fragile X is an expanding trinucleotide repeat disorder, it can have varying degrees of severity because the length of the repeating sequence which causes a constriction site on Xq can vary, usually increasing from generation to generation. This is presumably why it is expressed differently in different people. The condition is also dependant on certain nutritional factors, which could further vary expression of the phenotype.
The Turners thing yes, I see how this could be, but it would require that the subject be a partial parthenogenote or something similar, which is mind-blowingly rare... which would explain there being only 6 or 7... i will look that up.
Noetic, Fragile X is an expanding trinucleotide repeat disorder, it can have varying degrees of severity because the length of the repeating sequence which causes a constriction site on Xq can vary, usually increasing from generation to generation. This is presumably why it is expressed differently in different people. The condition is also dependant on certain nutritional factors, which could further vary expression of the phenotype.
Yes I forgot about that, of course Fragile X is not as "straightworward" as a msising or duplicated chromosome. To be honest I was looking for another condition which I had forgotten the name of, where the mosaic was very important in determining the severity of expresstion.
The Turners thing yes, I see how this could be, but it would require that the subject be a partial parthenogenote or something similar, which is mind-blowingly rare... which would explain there being only 6 or 7... i will look that up.
It's even rarer than that, because this boy apparently is the only one in the world with this particular configuration and in him I think the mosaic is entirely down to the roughly 50/50 split between the Down's and the Turner line, not due to the mosaic (like in the other 5 or 6 - his mother said there were 28 known cases studied at the moment and 6 out of them were boys, so I am not sure if she meant the 28th was her son).
I am nto sure what other mechanism could explain mosaicism besides partial parthenogenesis, need more details!
I read Count Us In because I've been working with someone who has Down's since the fall. I volunteer at the library, and one of the librarians decided to pair us. Since then, we've become friends. I've gone to her Special Olympics games, gone with her as she goes shopping, been to her house, met her family. We email each other sometimes. Before, I thought that I knew what intelligence was. But having met Kelly(my coworker) and her friends, I'm not so sure. So far, she's been able to do a lot of things that I thought *** people couldn't do. She reads and writes, she comes up with good ideas. I've adopted a lot of her favorite sayings because they work so well. She sanguine. I would say that my biggest obstacle in dealing with her is that her words sound a little different. But she can spell out any word that I don't understand, so it works out all right. And in case you are thinking that she's in the top group of ppl with Down's, I will point out that she hasn't been able to get a job, which she wants. She's 37. Anyhow, I don't see that the world is any worse due to Kelly's having Down's.
i find the facts that a person would abort a child just because it had downs. i meet a few people with donws in my life most ogf the ones i have knpw have jobsand are able to live some what indepentdenlty.
Are there any circumstances which could over-rule a woman's right to choose? They are not easy to imagine.
I was judged to be "sub-normal" as a child, and have an IQ of about 70.
Most of us would have been be judged "unfit parents" by the American and Nazi mental hygeine movements of the last century, so we should be very wary indeed of anyone who wants to interfere with the principles of women's reproductive rights.