Summary
The presence and inheritance of restriction fragment length polymorphisms (RFLPs) and gene lesions in the coagulation factor VIII gene were investigated in 15 hemophilia families. An abnormal HindIII 2.6-kb band, previously detected in a severe hemophiliac, was observed in a not severely affected patient and also in the normal gene of a woman carrying a hemophilic gene in which the lesions was found. The TaqI site in exon 24 of this defective gene was removed by a C to T transition causing an amino acid change (Arg→Gln). Very low amounts of factor VIII activity and antigen were detected in the severely affected grandson. The presence of the HindIII 2.6-kb fragment in both normal and patholgoical genes indicates that a factor VIII RFLP without functional meaning was found. Its frequency, determined in 60 chromosomes, is 0.18. Double digestions enabled us to map the polymorphic site 3′ to the exon 19.
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Bernardi, F., Legnani, C., Volinia, S. et al. A HindIII RFLP and a gene lesion in the coagulation factor VIII gene. Hum Genet 78, 359–362 (1988). https://doi.org/10.1007/BF00291736
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DOI: https://doi.org/10.1007/BF00291736