A HindIII RFLP and a gene lesion in the coagulation factor VIII gene |
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Authors: | F. Bernardi C. Legnani S. Volinia P. Patracchini G. Rodorigo V. DeRosa G. Marchetti |
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Affiliation: | (1) Centro di Studi Biochimici sul Morbo di Cooley, Università di Ferrara, Via L. Borsari, 46, I-44100 Ferrara, Italy;(2) Servizio di Angiologia, Ospedale S. Orsola, I-40100 Bologna, Italy |
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Abstract: | 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 (ArgGln). 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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