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TY - JOUR AU - Rees, D. J. G. AU - Rizza, C. R. AU - Brownlee, G. G. PY - 1985 DA - 1985/08/01 TI - Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene JO - Nature SP - 643 EP - 645 VL - 316 IS - 6029 AB - Haemophilia B (Christmas disease) is an inherited, recessive, sex-linked, haemorrhagic condition caused by a defect in the intrinsic clotting factor IX. This disease occurs in males at a frequency of ∼1 in 30,000. Patients differ in the severity of their clinical symptoms, and variation in the clotting activity and in the concentration of factor IX antigen in their plasma has been demonstrated1. There is probably heterogeneity in the molecular defects of the factor IX gene causing the disease. Here we study a severely affected, antigen-negative patient, and show that the only significant sequence difference from the normal factor IX gene is a point mutation changing the obligatory GT to a TT within the donor splice junction of exon f. We infer that this change is the cause of the disease in this individual. In addition, we have used oligodeoxynucleotide probes specific for this mutation to demonstrate the feasibility of carrier detection and prenatal diagnosis for relatives of the patient. SN - 1476-4687 UR - https://doi.org/10.1038/316643a0 DO - 10.1038/316643a0 ID - Rees1985 ER -