The molecular basis of single gene inherited disorders has been shown to vary between different populations and geographical regions. This research focuses on the identification of disease causing mutations in South African patients with a number of disorders, including cystic fibrosis, male infertility, haemophilia A and the haemoglobinopathies, with a view to improving DNA diagnostic services in South Africa. Four additional cystic fibrosis mutations were identified by colleagues in Manchester in South African patients. A A founder mutation for haemophilia A has been proposed in the South African white population. About half of the coding sequence of the Factor VIII gene has been screened thus far, but no mutations have been identified yet.
Work is ongoing to identify the mutation.
Sequencing is in progress, and at least one mutation has been identified. In addition, sequencing of the beta-globin gene is in progress in a number of these patients. Deletions also appeared different. The aim of the project is to try to define the molecular basis of SMA in black patients. Pulsed field gel electrophoresis is being optimised to study the different deletion patterns.