De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis.
In a family with a single case of hemophilia A genetic counselling was requested by the pregnant aunt of the propositus. The haplotypes generated by two extra-genic RFLPs, at DXS52 (St14/Taq1) and DXS15 (DX13/BglII), and one intragenic RFLP in F8C (647/BclI) indicated that: she was not a carrier; the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.
D004247:DNA / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005819:Genetic Markers; D005169:Factor VIII; D004247:DNA