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This summary outlines the essential steps in genetic testing, focusing on Huntington Disease (HD). It describes the process from collecting cell samples to DNA analysis using PCR and gel electrophoresis. The movement of DNA fragments through a gel is influenced by size, with smaller fragments traveling faster. Additionally, the HD gene is identified by its larger size due to extra CAG nucleotide repeats. The results are compared to control samples, illustrating the distinct DNA patterns of patients. Finally, an example pedigree for Huntington Disease is presented.
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Genetic Testing Unit 2-5 Notes Mr. Hefti – Pulaski Biology
1. Summary of Steps • Gene testing • Collect cells (blood sample) • Make copies of the DNA (PCR) • Separate the DNA (gel electrophoresis)
2. Gel Electrophoresis • DNA moves through gel based on size • Smaller fragments travel faster than larger fragments!!!
3. Huntington Disease Gene • HD gene contains extra CAG nucleotide repeats, therefore are larger in size than normal gene CAGCAGCAGCAGCAG
4. Results • Compare patients’ DNA test results to control samples Lane 1 = no sample Lane 2 = Positive control Lane 3 = Negative control Lane 4 = Patient A Lane 5 = Patient B Lane 6 = Patient C Larger DNA fragments end up here Smaller DNA fragments end up here
