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Fact # 6) What does the Sequence Tell Us (Especially about Disorders like Down Syndrome)?

 

Unfortunately, very little (so far).

Down syndrome results from an individual having three copies of chromosome 21 instead of the usual two. That's why it's also known as "Trisomy 21:"

Being the smallest of all human chromosomes, 21 was the very first chromosome to be completely sequenced. A map of major landmarks on the chromosome is shown below:

Click on the map (above) to visit the Current Emsemble Map of Chromosome 21

 

• One might hope that a quick look at the genetic landscape of Chromosome 21 would lead to quick insights (and maybe even treatments) for Down Syndrome.

That has not been the case, despite active research in a number of labs.

There's every reason to believe that the clues to this medical condition are right there in the Chromosome Map . . . if we only understood enough about gene regulation and gene interactions. These, clearly, are some of the most important aspects of the unexplored territory of human genetics.

 

 

For More Information, visit the ORNL Genome Information Site:

http://www.ornl.gov/hgmis/project/journals/insights.html

 

The Human Genome Top Ten: 10 9 8 7 6 5 4 3 2 1

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(A web site developed by Ken Miller and Joe Levine to provide scientific and education support for teachers and students using our textbooks)