DETERMINATION OF HEMOPHILIA-A CARRIER STATUS FROM HAIR SAMPLES USING POLYMERASE CHAIN-REACTION TECHNIQUE

The usefulness of intragenic restriction fragment length polymorphisms (RFLPs) for Bc1I, HindIII and XbaI, adapted for polymerase chain reac tion (PCR), was tested for the detection of haemophilia A carrier stat us in the consultand of a family in which only haematological informat ion was available on the inheritance of the trait. Hair follicles were used as the non-invasive source of DNA. The mother was found to be ho mozygous for Bc1I and heterozygous for HindIII sites, whereas her stat us as regards informativeness could not be established for XbaI. On th e basis of HindIII RFLP, the daughter was found to be a carrier of the haemophilia trait. This was confirmed by sequencing the amplified int ron 19 of the mother and the daughter. The RFLP for XbaI did not appea r to be suitable for carrier detection using PCR due to the difficulty of establishing homozygosity or heterozygosity from the results of di gestion of the amplified product.