|
KMID : 0358319960370010047
|
|
Korean Journal of Urology
1996 Volume.37 No. 1 p.47 ~ p.53
|
|
|
The Diagnosis of von Hippel-Lindau Disease Gene Carrier by DNA Polymorphism
|
|
문창호
김법완/정운복/김정완/장세국
|
|
|
Abstract
|
|
|
von Hipple-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.
Thcre has been considerable progress in the molecoular 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 feasrbility of this approach by prospectively comparing the results of restriction fragment length polymorphism9RFLP) analysis with a comprehensive clinical examination in asymtomatic, 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.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
  
|
|
|
Listed journal information
|
|
  
|