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Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone.
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Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2, and possibly abnormalities in other genes. In OI Type I, II, and III, the gene map locus is 17q21.
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Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2 and possibly abnormalities in other genes. In OI, the genetic abnormality causes one of two things to occur.
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Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2, and possibly abnormalities in other genes. In OI Type I, II, and III, the gene map locus is 17q21.
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OI is usually inherited as an autosomal dominant condition. In autosomal dominant inheritance, a single abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from either parent can cause the disease.
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Your body is always changing. If you have gray hair or stretch marks, you've probably noticed how your body can change. You may not always notice other ways that your body can change, however. For example, your body's cells constantly change, dividing and creating new cells. You might not notice it when, as your cells divide and copy their DNA (their genetic information), a mutation is introduced.
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In a strict sense, mutations are changes in genes not caused by genetic recombination. A change in the base sequence of DNA, for example, represents a mutational change.
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