S. Hussain et al., DETERMINATION OF HEMOPHILIA-A CARRIER STATUS FROM HAIR SAMPLES USING POLYMERASE CHAIN-REACTION TECHNIQUE, Clinical genetics, 46(3), 1994, pp. 263-267
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.