Mutation and amplification of RIT1 gene in hepatocellular carcinoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 43-46, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-329402
ABSTRACT
<p><b>OBJECTIVE</b>To explore the mutation and amplification of RIT1 gene and their correlation with carcinogenesis of hepatocellular carcinoma (HCC).</p><p><b>METHODS</b>The polymerase chain reactioindirect sequencing method was used for detecting the mutations in the sequence of all 6 exons in the RIT1 gene of 50 HCC tissues and paratumor tissues. And the amplification of RIT1 gene was examined by fluorescence quantitative polymerase chain reaction method.</p><p><b>RESULTS</b>A nucleotide 241 G --> C substitution in exon 5 of RIT1 gene was detected in one patient's HCC tissue, but not in paratumor tissue; this 241 G --> C substitution leads to Glu81Gln amino acid alteration in the conservative domain binding GTP. A nucleotide G --> C substitution in 5'-UTR (-21 bp from initial codon) was detected in all of the 50 HCC tissues and paratumor tissues, and 2- to 297-fold amplification of RIT1 gene was detected in 11 of 43 qualified cases, the amplification frequency being 25.6%.</p><p><b>CONCLUSION</b>Gene amplification is one of the main activating ways of RIT1 gene in HCC, and its amplification might be correlated with HCC carcinogenesis, while point mutation might be not.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
DNA de Neoplasias
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Química
/
Amplificação de Genes
/
Mutação Puntual
/
Carcinoma Hepatocelular
/
Proteínas ras
/
Genética
/
Neoplasias Hepáticas
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo
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