Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 539-541, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287379
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau disease (VHL).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Éxons
/
Deleção de Genes
/
Mutação em Linhagem Germinativa
/
Povo Asiático
/
Proteína Supressora de Tumor Von Hippel-Lindau
/
Genética
/
Doença de von Hippel-Lindau
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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