Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
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High-Quality Sequence of Human Chromosomes 21, 22 Achieved
Two international research consortia marked major milestones in the Human Genome Project (HGP) with the completion of the first high-quality DNA sequences for two human chromosomes. Chromosomes 22 and 21 sequences, respectively, were reported in the December 2, 1999, and May 18, 2000, issues of Nature. These two chromosomes, smallest in the human genome, account for 2% to 3% of the total 3 billion DNA bases. [For an explanation of when a chromosome is considered finished, see sidebar.]
Gene variants on chromosome 22 have been implicated in immune system function and in at least 27 disorders, including congenital heart disease, schizophrenia, mental retardation, birth defects, and leukemia and other cancers. Scientists reported that at least eight regions are present in duplicate, leading to speculation about this phenomenons evolutionary importance. Duplication can be studied closely when comparable animal genome sequences become available.
Analysis of chromosome 21 genes may permit a deeper understanding of Down syndrome and its complications, as well as a range of such other linked genetic disorders as Alzheimers disease and some forms of cancer.
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Last modified: Wednesday, October 29, 2003
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