In some conditions, the abnormal gene product not only loses
normal function but also interferes with the function of the
product from the normal allele. This type of mutation acts in a
dominant fashion and is referred to as having a dominant
negative effect. In type I osteogenesis imperfecta (OI), for
example, the causal mutations in the COL1A1 and COL1A2
genes produce an abnormal type I collagen that interferes with
normal triple helix formation, resulting in production of an
abnormal mature collagen responsible for the OI phenotype.
Saturday, April 11, 2009
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