[Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(5): 539-41, 2009 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-19806577
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Mutação em Linhagem Germinativa
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Povo Asiático
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Proteína Supressora de Tumor Von Hippel-Lindau
/
Doença de von Hippel-Lindau
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2009
Tipo de documento:
Article