Learning Objectives

• Recognise and recall the cause and clinical features of the major autosomal recessive disorders
• Recognise and create an autosomal recessive pedigree
• Describe the principles of compound heterozygote and heterozygote advantage in genetic disorders
• Explain in simple terms to a patient how autosomal recessive diseases are inherited

Genetics

• what is the relationships between disease phenotype and loss-of-function mutations?
• what are compound heterozygotes?
• what is meant by heterozygote advantage?
• what are the features of autosomal recessive inheritance?
• how does consanguinous marriage affect inheritance?

Gene Therapy

• what is gene therapy?
• how does somatic cell gene therapy work?
• what is germline gene therapy?
• what 2 methods are used to introduce genes into somatic cells?
• what 3 approaches are used to get genes to the right sites?
• how can an autosomal recessive child be produced by a couple with 1 carrier?

Phenylketonuria