[Molecular genetic analysis of a family with von Hippel-Lindau disease]

We analyzed germline mutations of the von Hippel-Lindau (VHL) gene located at chromosome 3p25 in a family of VHL disease by using single strand conformational polymorphism (SSCP) and Southern blot analyses. In 10 individuals including 2 patients with multiple renal cell carcinomas, multiple pancreatic cysts and cerebellar hemangioblastoma, there are no positive results in SSCP analysis. However, in 2 patients and one kindred, same abnormal band was observed in Southern blot analysis. Moreover, in this one kindred of 17 years old girl, multiple pancreatic cysts were found by computerized tomography (CT). These results shows the alteration in the VHL gene is a major rearrangement but not a small mutation and this alteration caused VHL disease in this family. Furthermore, presymptomatic diagnosis by direct mutation analysis seems to be very useful for early detection of this disease.