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. 1990 Jun;43(6):505-7.
doi: 10.1136/jcp.43.6.505.

Rapid assessment of haemophilia A carrier state by non-invasive techniques using the polymerase chain reaction

J Ball  1 , L J Warnock, F E Preston
Affiliations

Rapid assessment of haemophilia A carrier state by non-invasive techniques using the polymerase chain reaction

J Ball et al. J Clin Pathol. 1990 Jun.

Abstract

The polymerase chain reaction (PCR) was used to amplify two polymorphic regions in the factor VIII gene. In vitro synthesis of DNA was achieved using samples obtained from buccal cells, urine, and hair follicles in addition to purified genomic and crude DNA samples prepared from whole blood. Female members of two kindreds affected with haemophilia A were assessed for carrier state using direct restriction fragment length polymorphism analysis of amplified gene products in the Bc1I and XbaI regions. It is concluded that this is a non-invasive, rapid, and inexpensive technique for carrier detection.

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