LONDON (Reuters)
- British scientists are part of an international consortium that
sequenced the human genetic code published Monday but the chromosomes
they are working on contain 39 percent of human disease genes.
"It has been a truly international collaboration and would
not have been possible without such a partnership. But the fact
remains that Britain has looked after a third of the effort to
read the human genome," said Sir John Sulston, who led the
British research.
He and other
scientists at the Sanger Center in Cambridge have been working
on eight of the 24 human chromosomes. They were also the first
to decode the first human chromosome, number 22, in December 1999.
Scientists
estimate there are 30,000-40,000 genes in the human body but only
1,778 disease genes have been located so far. Researchers at the
Sanger Center have helped to identify 695.
Three chromosomes
they are sequencing, 1,6 and X, seem to carry more mutations that
lead to disease than the others.
Chromosome
1, which is expected to be completely sequenced by the end of
2002 is associated with disorders ranging from male sterility
and prostate cancer to Alzheimer's and heart disease.
Chromosome
6 is one of the largest human chromosomes with an estimated 718
genes. It is linked to autoimmune diseases, epilepsy, diabetes,
schizophrenia and ovarian and cervical cancer.
About 200
diseases have been associated with genes on the X chromosome including
testicular cancer, muscular dystrophy, hemophilia, mental retardation
and genes linked to eye disorders.
Martin Bobrow,
a professor of medical genetics at Cambridge University, described
the human genome sequence as a landmark event in science.
"It's
a big milestone to understanding our physical structure,"
he told a news conference.
In addition
to improving the understanding of inherited diseases such as cystic
fibrosis, he predicts the human genome will help scientists better
understand complicated disease due to genetic and environmental
factors.
It may also
lead to better treatments and preventive measures against infectious
diseases such as AIDS and tuberculosis.
"It is
going to make a big difference in the medium-to-long term to health,"
he added.
Dr. Mike Dexter,
the director of the Wellcome Trust charity which is funding the
British research, described the international effort and the British
contribution as an enormous benefit to science and global health.
"British
science has taken a few knocks in the last decade, but it is clearly
now regaining its rightful place at the leading edge of biomedical
research that promises health benefits for all humanity."
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