Elastic DNA elements - boon or blight?
Article Abstract:
The identification of some frequently occurring variations in DNA sequences may lead to the mapping of inherited defects to specific chromosomal locations. Some variations repeat the same base sequences, though they occasionally mutate to change the size of the unit that is repeated. Microsatellites are the simplest type of repeats. Minisatellites are more complex units and repeat from 10 to 100 bases. In medicine, these repeating strands can be used to differentiate between donor and host cells in bone marrow transplantation or to compare tumor cells with normal cells. The fact that these repeats occur in several different forms also makes them useful for inheritance studies of diseases. These repeats have been associated with myotonic dystrophy, spinobulbar muscular atrophy, Huntington's disease, fragile X mental retardation and spinocerebellar ataxia.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1993
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Transcription-factor mutations and disease
Article Abstract:
Many diseases are caused by mutations in transcription factors, which are proteins that regulate the transcription of DNA and expression of various genes. Mutations of factors that control gene expression in the pituitary gland may lead to abnormal growth or cause mental retardation. Mutations of thyroid and steroid hormone receptors can cause similar results. Some cancer-causing genes, known as oncogenes, produce transcription factors that stimulate excessive cell growth in cancers such as leukemia. Some antioncogenes prevent cancer by producing transcription factors that inhibit cell growth or interfere with oncogenes. Mutations in antioncogenes can lead to cancers in the bone, brain, and breast. Gene therapy and medications may be developed to treat these diseases by altering mutations or interacting with mutated transcription factors.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1996
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Medical and societal consequences of the Human Genome Project
Article Abstract:
The Human Genome Project, launched in 1990, plans to have the entire human genetic code mapped by 2003. Mapping the 80,000 genes within the human genetic code will greatly facilitate research into the genetic basis for disease, and enable scientists to develop tests to assess individual patients' risks for many genetically-influenced conditions. As genetic testing becomes more common and more accurate, laws will be required to protect people from discrimination in health insurance and employment due to their genetic predispositions.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1999
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