Detection of large intragenic mismatch repair genes deletions in Chinese hereditary nonpolyposis colorectal cancer families with multiplex ligation-dependent probe amplification technique / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 837-839, 2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-313673
ABSTRACT
<p><b>OBJECTIVE</b>To gain an insight into the large intragenic hMSH2 and hMLH1 deletions in Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHOD</b>The large intragenic hMSH2 and hMLH1 deletions in 17 probands of HNPCC families were detected with multiplex ligation-dependent probe Three large intragenic hMSH2 deletions of examplification (MLPA) and GeneMapper techniques.</p><p><b>RESULTS</b>on 8, exon 1-6, and exon 1-7 were found in three families respectively, and no hMLH1 deletion was found. The deletions accounted for 19% of the total hMSH2 and hMLHI germline pathogenic mutations.</p><p><b>CONCLUSIONS</b>The incidence of large intragenic mismatch repair (MMR) genes deletions is relatively higher in Chinese families, and hMSH2 deletions may be more common. It is necessary to detect the large intragenic MMR genes deletions in the molecular detection of HNPCC.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteínas Nucleares
/
Neoplasias Colorretais Hereditárias sem Polipose
/
Deleção de Genes
/
Técnicas de Amplificação de Ácido Nucleico
/
Proteínas Adaptadoras de Transdução de Sinal
/
Proteína 2 Homóloga a MutS
/
Proteína 1 Homóloga a MutL
/
Genética
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2006
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS