[Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].

Abstract

OBJECTIVE:

To investigate the large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau disease (VHL).

METHODS:

The large deletion of the VHL gene in 20 unrelated Chinese VHL families was analyzed by using universal primer quantitative fluorescent multiplex polymerase chain reaction (UPQFM-PCR) and GeneScan analysis.

RESULTS:

Partial and complete VHL gene deletions were detected in 6 probands, including 3 exon 1 deletions, 1 exon 3 and 2 complete deletions. Of the 2 families with the complete deletions, patients developed multi-centric hemangioblastoma in the retina and central nervous system (CNS), and none developed renal cell carcinoma (RCC).

CONCLUSION:

Partial and complete VHL gene deletions could be detected in Chinese kindreds with von Hippel-Lindau disease and the test for large deletion of the VHL gene should be implemented in routine DNA diagnosis for VHL disease. Further investigations are required to confirm that entire VHL deletions may be associated with a high risk of hemangioblastomas in the retina and central nervous system.

• Authors: Jin Zhang, Hai-ge Chen, Wei Xue, Li-xin Zhou, Yi-ran Huang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 26 Issue 5 Pg. 539-41 (Oct 2009) ISSN: 1003-9406 [Print] China
• PMID: 19806577 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Von Hippel-Lindau Tumor Suppressor Protein
• VHL protein, human

Topics

• Asian People (genetics)
• Exons
• Female
• Gene Deletion
• Germ-Line Mutation
• Humans
• Male
• Pedigree
• Von Hippel-Lindau Tumor Suppressor Protein (genetics)
• von Hippel-Lindau Disease (genetics)