RT Journal Article
SR Electronic
T1 Rapid assessment of haemophilia A carrier state by non-invasive techniques using the polymerase chain reaction.
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 505
OP 507
DO 10.1136/jcp.43.6.505
VO 43
IS 6
A1 J Ball
A1 L J Warnock
A1 F E Preston
YR 1990
UL http://jcp.bmj.com/content/43/6/505.abstract
AB 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.