Summary
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: (i) she was not a carrier; (ii) the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.
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Delpech, M., Deburgrave, N., Baudis, M. et al. De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis. Hum Genet 74, 316–317 (1986). https://doi.org/10.1007/BF00282556
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DOI: https://doi.org/10.1007/BF00282556