The Diagnosis of von Hippel-Lindau Disease Gene Carrier by DNA Polymorphism / 대한비뇨기과학회지

ABSTRACT

von Hippel-Lindau disease(VHL) is an autosomal dominant disorder, associated with tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable There has been considerable progress in the molecular genetics of VHL disease. The VHL disease gene belongs to the family of tumor suppressor genes. The disease gene has been located in 6 to 8 centimorgan interval between RAF1 and D3S18, an anonymous DNA marker located at 3p26. It should be possible for the probe that flank the disease genes to identify carrier of the disease gene by DNA polymorphism analysis. We tested the feasibility of this approach by prospectively comparing the results of restriction fragment length polymorphism(RFLP) analysis with a comprehensive clinical examination in asymptomatic, at risk members of family with VHL disease. We found that RFLP analysis can distinguish VHL disease gene carriers from their healthy siblings. The result of this study suggests that the inheritance of the VHL gene was linked to RAF1. Deletions of chromosome 3p25-26 region were also detected in other VHL disease patient and a recurrent abortion case through karyotyping and RAF1 southern blotting. DNA polymorphism analysis can identify individuals likely to carry the VHL disease gene among asymptomatic members of disease families.