Analysis of BCL 1 Polymorphism in the human factor VIII gene

Abstract

The study involved fragment analysis of intron 18 of the factor VIII gene which contained the restriction site for Bcl 1 enzyme in two haemophilia A families. The fragment was amplified using polymerase chain reaction (PCR) technique. Digestion with the appropriate enzyme revealed that in family A, only a 99bp fragment was obtained and therefore is not informative for carrier detection. However, family B showed presence of a 142bp and 99bp fragments in the mother. This 142bp fragment is inherited by her haemophilic son and this fragment is also found in her daughter suggesting that she is a carrier of the affected X, responsible for the haemophilia A. These contrasting findings in the two families illustrate the usefulness of this polymorphic marker in detection of carriers in the female sibling of the families studied.