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

利用聚合酶链式反应的非侵入性技术快速评估血友病A携带者状态

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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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