- VernacularTitle:中国人von Hippel-Lindau病家系致病基因大片段缺失研究
- Author:
Jin ZHANG
1
;
Hai-ge CHEN
;
Wei XUE
;
Li-xin ZHOU
;
Yi-ran HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Exons; Female; Gene Deletion; Germ-Line Mutation; Humans; Male; Pedigree; Von Hippel-Lindau Tumor Suppressor Protein; genetics; von Hippel-Lindau Disease; genetics
- From: Chinese Journal of Medical Genetics 2009;26(5):539-541
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau disease (VHL).
METHODSThe 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.
RESULTSPartial 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).
CONCLUSIONPartial 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.