BIOL 206 Lecture Notes - Lecture 18: Trinucleotide Repeat Disorder, Human Genetic Variation, Dystrophin
16 Apr 2016
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Document Summary
Control systems can repair or induce cell death. When a healthy cell detects damage to dna it stops the cell cycle. Because of this most mutations do not show up in phenotype. How to know when a mutation has occurred. Determine if condition is caused by genetic or nongenetic factors. Pedigree analysis with no family history suggests a mutation has occurred. Recessive alleles can be carried in a family for many generation, unexpressed. Gene size (e. g. dystrophin gene) plays an important fact in mutation rate. Death occurs in late teens or early twenties. Results in mechanically fragile muscles that fair after a few years. Anchors the cytoskeleton of muscle to the extracellular matrix. Trinucleotide repeat disorders can involve expansions in coding and non-coding regions of the gene. Caused by template slippage during dna replication followed by a mismatch repair. Cause heritable diseases and determine responses to drugs.
