MOLECULAR GENETIC ANALYSIS OF A FAMILY WITH VON HIPPEL-LINDAU DISEASE
von Hippel-Lindau 病の1家系における遺伝子解析

Hiro-omi Kanayama, Seiichi Naruo, Hiroshi Takigawa, Susumu Kagawa, Keiichi Kondo, Masahiro Yao, Taro Shuin, Masahiko Hosaka
1995 The Japanese Journal of Urology  
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,
more » ... n 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.
doi:10.5980/jpnjurol1989.86.1216 pmid:7637236 fatcat:fkaquhlpyfa3pej33pot77z2cu