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- There are over 50 clinical signs of Down syndrome, but it is rare to
find all or even most of them in one person. Some common characteristics
and down syndrome facts include:
- Poor muscle tone
- Slanting eyes with folds of skin at the inner corners (called epicanthal
folds)
- Hyperflexibility (excessive ability to extend the joints)
- Short, broad hands with a single crease across the palm on one or both
hands
- Broad feet with short toes
- Flat bridge of the nose
- Short, low-set ears
- Short neck
- Small head
- Small oral cavity
- Short, high-pitched cries in infancy.
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- When DNA is cut with a restriction enzyme then DNA pieces of varying
lengths are produced = DNA restriction fragments
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- The process failed 276 times. The 'new cells' (enucleated oocytes
with donor nucleuses) were inserted into many ewes. The scientists
checked their process after a few days and only recovered 247
cells. Some may have been lost because they are so hard to
find. Others died early and decomposed. When examined under
a microscope, 88% of the 'new cells' that had been transferred had not
developed. The researchers put the 29 remaining embryos into 13
ewes. Some ewes got only one embryo, some two, and some
three. If the embryo and the ewe are not in synch, then the embryo
won't become implanted in the ewe's womb. This is difficult to do
and Roslin researchers said in their paper "Not all recipients were
perfectly synchronized". This may be why only one of the 13
ewes became pregnant. Obviously, this was the one to give birth to
Dolly.
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- There have always been signs that cloned animals are more vulnerable to
heart and breathing problems, obesity, and deformity.
However, this diagnosis didn't come as a total surprise. In
1999, reports showed that Dolly's cells were older than her birth
age. In fact, Dolly could have been six years old the moment she
was born. Then Dolly would really be 11, and a normal lifespan for
a sheep is 12-15 years.
Studies have found that the telomeres (tail on the end of a
chromosome that keeps the genetic information inside) on Dolly's cells
and the cells of two other cloned animals are shorter than those on
regular sheep of the same maturity. In lab studies, telomeres
become smaller after each cell division. After many divisions, the
telomeres wear down to 'unstable stubs' and will discontinue division,
break down, or die.
While no-one can blame Dolly's short telomeres or the cloning
process for her arthritis, investigations have shown that people with
rheumatoid arthritis also have shorter telomeres.
Cells being cloned won't necessarily be reset to day one when
transferred into the case that becomes the clone. Some incomplete
genetic programming in the cloning process may be the problem here, but
it may also depend on the creature being cloned or the method used clone
a creature.
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- Telomerases = enzymes that modify telomers
- If telomeres could be maintained in lengthened state = cells live longer
= potential fountain of youth???
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- Completed in 2003, the Human Genome Project (HGP) was a 13-year project
coordinated by the U.S. Department of Energy and the National Institutes
of Health. During the early years of the HGP, the Wellcome Trust (U.K.)
became a major partner; additional contributions came from Japan,
France, Germany, China, and others.
- Project goals were to:
- identify all the approximately 20,000-25,000 genes in human DNA,
- determine the sequences of the 3 billion chemical base pairs that make
up human DNA,
- store this information in databases,
- improve tools for data analysis,
- transfer related technologies to the private sector, and
- address the ethical, legal, and social issues (ELSI) that may arise
from the project.
- http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chooser.shtml
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Notes
