20 - Molecular Diagnosis & Gene Discovery

Question 1

Deep phenotyping

Answer 1

Group patients with a unique phenotype/presentation and then look for genes with variants that are common between families

Question 2

Why is knowing the disease causing mutation important

Answer 2

• Accurate diagnosis
• Avoid invasive procedures
• Prognosis
• Prevention

Question 3

Gene discovery in large families with a dominant disease

Answer 3

• Typically needed at least 11 affected individuals for studies involving traditional linkage and the candidate gene approach
• Narrow down to region of a particular chromosome and then sequence likely candidate gene within that region