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The mission of KromaTiD Inc., an early-stage bioscience company in the State of Colorado, is to create new products for chromosome analysis that ultimately will find application in biomedical research and medical testing. Many health problems – cancer, birth defects, infertility and mental retardation among them – are associated with damaged chromosomes. Often a critical step in forming a precise diagnosis of a health problem depends on identifying a specific kind of chromosome damage. Cancer, for example, is associated with at least 500 specific individually identifiable chromosome anomalies. These are largely rearrangements that result if two or more chromosome breaks that can occur for various reasons, do not rejoin in the original configuration but rejoin incorrectly with different ends from different breaks. These are called structural aberrations, and detecting them aids not only in the diagnosis of various cancers but also in delineating subtypes of the disease that may have a substantially different susceptibility to drugs used in chemotherapy. Genetic counseling, in amniocentesis for instance, also relies on chromosome analysis.
Of all possible types of structural chromosomal anomalies, inversions – segments of DNA within a chromosome inappropriately flipped around – are the most difficult to detect. This is especially true of small inversions, most of which are invisible to all current cytogenetic techniques. Because they are small, however, does not necessarily mean they must be less harmful. Inversions, like other chromosome rearrangements, can disrupt control of |
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