DIAGNOSIS OF AND THERAPY FOR HEREDITARY HAEMORRHAGIC TELANGIECTASIA

摘要

A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) whichincludes the steps of: obtaining a sample of genomic DNA from a patient orfetus; and determining whether the DNA contains a mutation in a gene encodingendoglin, betaglycan, TGF-.beta. type I receptor (RI), TGF-.beta. type IIreceptor (RII), or TGF-.beta./activin type I receptor (TSR-I), such a mutationbeing an indication that the patient or fetus bears a gene making the patientor fetus susceptible to HHT.