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ACCURATE PRENATAL DIAGNOSIS WITH NOVEL POLYMERASE CHAIN REACTION PRIMERS IN A FAMILY WITH SPORADIC HEMOPHILIA A

From the Department of Biochemistry and Molecular Biology, Guggenheim 5, Mayo Clinic/Foundation, Rochester, Minnesota; the Division of Reproductive Genetics, Department of Obstetrics and Gynecology, and the Department of Molecular Biology and Genetics and Center for Molecular Biology, Wayne State/Hutzel University Hospital, Detroit, Michigan; the Department of Medicine, Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, California; and the Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan

Novel oligonucleotide primers are described for the convenient and internally controlled detection of the BclI factor VIII polymorphism on agarose gels. The primers were used for prenatal diagnosis in a family in which only one individual was affected with hemophilia A. In such families, it is important for the mother to understand that uncertainty about the point of origin of the mutation precludes the accurate diagnosis of affected fetuses but does allow the accurate diagnosis of unaffected fetuses in many cases.