ILOs

Understand…

• How to interpret pedigrees (family trees) and some risk calculation for families e.g.
  • Carrier risks, e.g. in Duchenne muscular dystrophy (DMD)
  • How to communicate risk in a manner that can be best understood by patients
• Know where to get more information on clinical aspects, specific genes and proteins.
• Know where to refer patients.
• Genetic heterogeneity
• Current major ethical issues in genetics e.g. giving results of incidental findings and testing of children

• What is pre-implantation genetic diagnosis (PGD)?
• What is genetic heterogeneity?
• What is genetic pleiotropy?
• Which of the following is inherited by an X-linked dominant mechanism?
• In relation to proto-oncogenes, which one of the following is correct?
• Would two different gene mutations located on the same copy (in cis) of a gene be enough to cause an AR disorder?
• QF-PCR for aneuploidies is usually performed on…?
• Could a female be affected by an X-recessive disorder if she had a mutation on both of her X chromosomes?
• A boy has CF. What is the approximate chance of her mother’s brother being a carrier?
• A 12 year old boy has CF. What is the approximate chance that his healthy older sister is a carrier?
• A man affected by an X-linked recessive condition marries a heterozygous carrier (with a mutation in the same gene). If they have a daughter, the chance that she’ll be affected is closest to which of these?
• The inheritance of haemochromatosis is usually by which mechanism?