Identification of carriers of haemophilia by polymerase chain reaction

The gene for the coagulation protein factor VIII contains several common restriction fragment length polymorphisms which can be used to analyse the pattern of inheritance of factor VIII alleles within families. This can be exploited to identify carriers of haemophilia, an X-linked inherited disorder characterised by deficiency of factor VIII. In this study the polymerase chain reaction was used to analyse a polymorphism recognised by the restriction enzyme Bcl1, located at intron 18 of the factor VIII gene. The restriction fragment patterns generated were used to track the inheritance of mutated factor VIII alleles within families allowing haemophilia carrier status to be determined in individuals at risk.