Matt Bower, MS, CGC - Huntington's Disease Society of America

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Discovering the HD gene • The HD gene was called “IT15” • The gene contained a repeated series of letters- a CAG repeat. • Affected individuals from 75 different families consistently had > 40 CAG repeats • Unaffected individuals consistently had
Discovery of HD gene opened the door for accurate predictive testing Rather than a “probability” of being affected based on sharing genetic information, individuals received their own “CAG” repeat number
Page 1 and 2: Genetics and Huntington disease Mat
Page 3 and 4: Presenter Disclosures Matthew Bower
Page 5 and 6: HD history--Making genetics interes
Page 7 and 8: What was notable about Dr. Huntingt
Page 9 and 10: While we understood the inheritance
Page 11 and 12: Why Venezuela? • Lake Maracaibo r
Page 13 and 14: Where is our genetic information st
Page 15: Ancient history of HD • Some desc
Page 18 and 19: The HD story- finding the gene Pers
Page 20 and 21: How do you map a gene? • You need
Page 22: What comes next? • Researchers tr
Page 25 and 26: HD Presumed gene location of the HD
Page 27 and 28: Success! • [No authors listed] Th
Page 32 and 33: Discovery of HD gene opened the doo
Page 34 and 35: Predictive Testing Guidelines Key P
Page 36 and 37: Lessons from 15 years of predictive
Page 38 and 39: Life in a Molecular Diagnostics Lab
Page 40 and 41: Life in a Molecular Lab • The mol
Page 42: Receiving the sample • One of the
Page 45 and 46: DNA precipitation- DNA is “pulled
Page 47 and 48: PCR- molecular “xeroxing” Fluor
Page 50: 15 20 15 and 20 CAG repeats 17 63 1
Page 53 and 54: Technical results- “CAG” repeat
Page 55 and 56: Official repeat ranges for HD • 9
Page 57 and 58: Diagnosis-65 Diagnosis-40 Diagnosis
Page 59 and 60: Anticipation is due to expansion of
Page 61 and 62: HD without a family history A molec
Page 63: HD “skips generations” Died age

Matt Bower, MS, CGC - Huntington's Disease Society of America

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