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Missing Genes Tied to Mental Retardation
ScienceNOW Daily News ^ | 17 August 2006 | Kelli Whitlock Burton

Posted on 08/21/2006 11:28:20 PM PDT by neverdem

Three independent research groups have identified a large genetic deletion that causes mental retardation. "They've broken open a bubble of something that's going to lead to a lot of follow up," comments William Dobyns, a developmental neurogeneticist at the University of Chicago, who was not affiliated with any of the studies.

Mental retardation comes in a baffling diversity of conditions and could be caused by hundreds of underlying genetic triggers, only a few of which have been identified. One glimmer of hope is the advent of detailed scans of individuals' genomes, which are powerful tools in the search for mutations. However, they yield a deluge of data. Focusing in, researchers in the Netherlands, the United Kingdom, and at the University of Washington (UW) in Seattle decided to take aim at "hot spots" on the genome. These regions are flanked by duplicated genetic sequences prone to rearrangement, which can lead to the accidental loss of genes.

Each team examined a different population of people, ranging in size from 50 to 1200, with various kinds of mental retardation. They found that a small number were missing the same six genes on chromosome 17. Two of these genes, when deleted, are thought to be involved with mental retardation. The data suggest that the deletion could be involved in about 1% of all cases of mental retardation, the researchers report online 13 August in a trio of papers in Nature Genetics.

All three teams found these deletions in children, so they decided to check their parents' genomes. The region turned out to be inverted in all the parents. This suggests that the children of parents with inversions are predisposed to the deletion, says Evan Eichler, a human geneticist who led the UW effort.

Although other studies suggest that one out of every five Caucasians of European ancestry may have this inversion, just how many will have children with the deletion is unknown. One problem is the small size of the studies, Eichler notes. To learn more about the deleted genes and their function, scientists need to study more people with the genomic deletion, he says, which is something his team is addressing now.

Related sites

Learn more about mental retardation from Medline Plus


TOPICS: Culture/Society; Extended News; News/Current Events; US: Washington; United Kingdom
KEYWORDS: deletion; genes; genetics; health; inversion; mentalretardation; science

Missing DNA. Children with a missing section of chromosome 17 have distinct facial features and mental retardation. Credit: Sharp et al., Nature Genetics, Advanced Online Publication (2006)
1 posted on 08/21/2006 11:28:22 PM PDT by neverdem
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To: neverdem
The data suggest that the deletion could be involved in about 1% of all cases

1% is a small percentage.

2 posted on 08/21/2006 11:35:58 PM PDT by Jeff Chandler (Peace begins in the womb.)
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To: neverdem

This still doesn't explain liberals...


3 posted on 08/22/2006 12:15:37 AM PDT by WestVirginiaRebel (Common sense will do to liberalism what the atomic bomb did to Nagasaki-Rush Limbaugh)
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To: El Gato; Ernest_at_the_Beach; Robert A. Cook, PE; lepton; LadyDoc; jb6; tiamat; PGalt; Dianna; ...
Doctors test ways to grow knee cartilage (adult stem cells)

Premature Births Linked to Gene Variant

NASA Finds Direct Proof of Dark Matter

FReepmail me if you want on or off my health and science ping list.

4 posted on 08/22/2006 12:21:20 AM PDT by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: Jeff Chandler

Yet it's a start. They should NOT use this to test babies in utero, and then abort them if they do not have these genes. It could be used for gene therapy.


5 posted on 08/22/2006 12:24:38 AM PDT by Jedi Master Pikachu ( http://www.answersingenesis.org)
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To: Jeff Chandler
1% is a small percentage.

From Medline Plus:

"Mental retardation affects about 1 to 3% of the population."

Out of 6 billion plus total in the world, it's not insubstantial.

6 posted on 08/22/2006 12:37:26 AM PDT by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: neverdem
One problem is the small size of the studies, Eichler notes. To learn more about the deleted genes and their function, scientists need to study more people with the genomic deletion, he says, which is something his team is addressing now.

They should study the DU'ers.

7 posted on 08/22/2006 12:41:11 AM PDT by Cementjungle
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To: Cementjungle

And if they need more subjects, I'm sure the good folks at the Libertypost would be happy to help.


8 posted on 08/22/2006 12:45:56 AM PDT by A Balrog of Morgoth (With fire, sword, and stinging whip I drive the RINOs in terror before me.)
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To: neverdem

If I read the article right, it's 1% of the 1%.


9 posted on 08/22/2006 2:09:10 AM PDT by Jeff Chandler (Peace begins in the womb.)
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To: neverdem

With my browser window set at its usual size, I could see the top of the head of the kid in the picture, down to the eyebrows.

Seeing just that much, I presumed it was a picture of Natalie Maines.


10 posted on 08/22/2006 7:05:14 AM PDT by Erasmus (It takes branes to make an alternate universe!)
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To: neverdem; All

"...other studies suggest that one out of every five Caucasians of European ancestry may have this inversion..."

The professional race baiters are going to use this very quickly. Louis Farakhan will be jumping up and down screaming he was right.


11 posted on 08/22/2006 9:59:01 AM PDT by longtermmemmory (VOTE! http://www.senate.gov and http://www.house.gov)
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To: longtermmemmory
"...other studies suggest that one out of every five Caucasians of European ancestry may have this inversion..."

The professional race baiters are going to use this very quickly. Louis Farakhan will be jumping up and down screaming he was right.

What's he going to do about other references?

Premature Births Linked to Gene Variant

12 posted on 08/22/2006 11:50:51 AM PDT by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: Jeff Chandler
If I read the article right, it's 1% of the 1%.

Yes, that's the relative value. In absolute numbers of the world's population of over 6,000,000,000, that means 1% of 60,000,000 to 180,000,000, i.e. the 1 to 3 percent of the world's population that's mentally retarded according to MedlinePlus.

So in absolute terms, it affects over 600,000 to over 1,800,000, notwithstanding "one out of every five Caucasians of European ancestry may have this inversion," however that inversion is related to the actual deletion on chromosome 17.

The last time I looked, the total number of active duty and reserve personnel in the U.S. Armed Forces was about 2,100,000. As the effects of genetics upon health become more understood, I'll wager that you'll find similar numbers.

13 posted on 08/22/2006 12:34:01 PM PDT by neverdem (May you be in heaven a half hour before the devil knows that you're dead.)
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To: WestVirginiaRebel

The three genes cause a predisposition to 1. Beer 2. NASCAR and 3. Big trucks with gun racks. See also: Redneck


:>)


14 posted on 08/22/2006 4:08:45 PM PDT by irishtenor (We survived Clinton in the 80s... we can survive her even when her husband is gone.)
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