BIOLOGY 2C03 Lecture Notes - Trinucleotide Repeat Disorder, Hindiii, Haplotype
23 Nov 2013
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Document Summary
Several human disorders caused by tri-nucleotide repeats. Normal range refers to the number of copies in normal individuals = no risk for the disease. Susceptibility increases with number of copies of repeats. Huntington"s disease was described in 1893 by wiliam osler. A hereditary form of chorea = the inability to control one"s muslces. This is a progressive disorder that gradually worsens = loss of control of the arms, legs, and facial muscles is associated with bizarre, sudden, and random movements. Symptoms did not manifest until the age of 40 or 50. The first report from george huntington in 1872. Observations of families on long island showed characteristics of a dominant disorder in which every generation may be affected but this predated the work of mendel. Age dependent disorder: more likely to exhibit at later stages, but does happen in earlier stages of life.
